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Survey of Ophthalmology
Volume 49, Issue 2
, Pages 159-196
, March 2004
Ocular genetics: current understanding
References
- —: Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet. 1998;7:1185–1192
-
.
Albinism.
In:
Traboulsi EI editors. Genetic Diseases of the Eye. New York: Oxford University Press; 1998;
chap 34
- Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001;28:92–95
-
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans.
Proc Natl Acad Sci USA. 1998;95:3048–3053
- . Molecular biology of the Rh antigens. Blood. 1991;78:551–563
- . Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25–34
- A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996;5:1199–1203
- Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11), and association with a unique bimodal expressivity phenotype. Am J Hum Genet. 1996;59:864–871
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26:211–215
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236–245
- Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998;125:98–100
- PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000;8:820–826
- Spinocerebellar ataxia in monozygotic twins. Arch Neurol. 2002;59:1945–1951
-
A second locus for the pigment dispersion syndrome and pigmentary glaucoma maps to 18q11-q21.
Am J Hum Genet. 1998;63(Suppl):A279
- A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol. 1997;115:384–388
- . Biochemical aspects of the blood group Rh (rhesus) antigens. Baillieres Clin Haematol. 1993;6:401–422
- . Localization of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999;65:1639–1646
- Gene encoding a novel murine tissue inhibitor of metalloproteinases (TIMP), TIMP-3, is expressed in developing mouse epithelia, cartilage, and muscle, and is located on mouse chromosome 10. Dev Dyn. 1994;200:177–197
- Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet. 1997;6:689–694
- . New clinical test of retinal function based on the standing potential of the eye. Br J Ophthalmol. 1962;46:449–467
-
.
A progressive early onset cataract gene maps to human chromosome 17q24.
Nature Genet. 1995;9:37–40
- Classification of corneal endothelial disorders based on neural crest origin. Ophthalmology. 1984;91:558–563
- A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics. 1995;30:281–286
- Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. Invest Ophthalmol Vis Sci. 1987;28:1037–1042
- . Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7. Genomics. 1988;3:17–24
- Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Am J Hum Genet. 1992;51:1028–1035
- Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995;10:13–19
- . Microphthalmos. Int Ophthalmol Clin. 1984;24:87–107
- . A new βa1-crystallin splice junction mutation in autosomal dominant cataract. Invest Ophthalmol Vis Sci. 2000;41:3278–3285
- . Peters anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol. 1984;97:11–15
- Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutat. 1995;5:228–234
- A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet. 1998;35:141–145
- Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet. 1997;34:92–98
- . Role of the neural crest in anterior segment development and disease. J Pediatr Ophthalmol Strabismus. 1984;21:209–214
- Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet. 1998;103:124–130
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000;26:319–323
- Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:264–267
- Recombinational and physical mapping of the locus for primary open- angle glaucoma (GLC1A) on chromosome 1q23-q25. Genomics. 1997;39:348–358
- Characteristics and outcome in arrhythmogenic right ventricular dysplasia. Am J Cardiol. 1995;75:411–414
- . Erbliches jugendliches glaukom. Acta Ophthalmol. 1932;10:568–587
- . Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. [published erratum appears in Am J Hum Genet 1997;61(2):471] [see comments] Am J Hum Genet. 1997;60:1468–1473
- Isolation of a candidate gene for Norrie disease by positional cloning. [published erratum appears in Nat Genet 1992;2(1):84] Nat Genet. 1992;1:199–203
- Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001;69:1141–1145
- A locus for autosomal dominat anterior polar cataract on chromosome 17p. Hum Mol Genet. 1996;5:415–419
- . A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet. 1998;62:1113–1116
- A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. [letter] Nat Genet. 1999;21:355–356
- . Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000;136:828–831
- Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984;309:253–255
- A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26:56–60
-
.
Fundus flavimaculatus.
In:
Newsome DA editors. Retinal Dystrophies and Degenerations. New York: Raven Press; 1988;
- Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991;11:857–869
- Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. Am J Med Genet. 1990;37:54–59
- Primary mesodermal dysgenesis of the cornea (Peters anomaly) in two brothers. Hum Genet. 1979;51:237–240
- . Structural aberration of the rough endoplasmic reticulum and melanosome compartmentalization in long-term cultures of melanocytes from vitiligo patients. J Invest Dermatol. 1991;97:395–404
- Mutation in and lack of expression of tyrosinase-related protein-1 (TRP01) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as OCA3. Am J Hum Genet. 1996;58:1145–1156
- Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27:108–112
- No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet. 1995;32:951–953
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68:26–37
- . Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595–603
- Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002;11:559–568
- Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet. 1998;62:865–875
- . Dystrophy of the macula. Am J Ophthalmol. 1966;61:1–24
- . Age-related macular degeneration. Surv Ophthalmol. 1988;32:375–413
-
.
Verification and fine mapping of the X-linked retinitis pigmentosa locus RP6.
Invest Ophthalmol Vis Sci. 2000;41:S191
- . Hereditary blindness among Pingelapese people of Eastern Caroline Islands. Lancet. 1970;1:1253–1257
- Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. [see comments] Arch Ophthalmol. 1995;113:671–675
- Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). [see comments] [published erratum appears in Arch Ophthalmol 1997;115(5):663] Arch Ophthalmol. 1997;115:95–99
- Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J. 1989;8:1183–1190
- . Bothnia dystrophy caused by mutations in the cellular retinaldehyde- binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci. 1999;40:995–1000
- . Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. Eur J Hum Genet. 1998;6:187–193
- A gene for Lebers congenial amaurosis maps to chromosome 17p. Hum Mol Genet. 1995;4:1447–1452
- Sorsbys fundus dystrophy. A light and electron microscopic study. Ophthalmology. 1989;96:1769–1777
-
.
RH blood groups and Rh-deficiency syndrome.
In:
Cartron JP, Rouger P editor. Molecular basis of major human blood group antigens. ed 6. New York: Plenum; 1995;p. 189–225
- Genetic origin of mutations predisposing to retinoblastoma. Science. 1985;228:501–503
- A newly identified locus for Usher syndrome type 1, USH1E, maps to chromosome 21q21. Hum Mol Genet. 1997;6:27–31
- Localization of the human RGR opsin gene to chromosome 10q23. Hum Genet. 1996;97:720–722
- Norrie disease gene: characterization of deletions and possible function. Genomics. 1993;16:533–535
- Isolation and characterization of a candidate gene for Norrie disease. Nat Genet. 1992;1:204–208
- Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization. Hum Genet. 1991;86:398–400
- Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem Biophys Res Commun. 1991;178:227–235
- . Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger’s syndrome. Br J Ophthalmol. 1983;67:529–534
- . Peters anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol. 1985;100:733–734
-
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.
Proc Natl Acad Sci USA. 1998;95:328–333
- . Congenital nystagmus. Can J Ophthalmol. 1967;2:4–10
- Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. Cytogenet Cell Genet. 1978;22:295–297
- . Inappropriate use of albino animals as models in research. Pharmacol Biochem Behav. 1980;12:969–977
- An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Hum Mol Genet. 1992;1:71–75
- Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardts disease gene ABCR. Hum Mol Genet. 1998;7:355–362
- Cloning of a gene that is rearranged in patients with choroideraemia. [see comments] Nature. 1990;347:674–677
- . The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159–166
- . Electro-oculography in Bests muscular dystrophy. Am J Ophthalmol. 1974;77:46–50
- . Short-range order of crystallin proteins accounts for eye lens transparency. Nature. 1983;302:415–417
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26:207–210
- X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70:1049–1053
- Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001;69:198–203
- Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999;23:217–221
- A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet. 2000;66:319–326
- The matrix metalloproteinases and their natural inhibitors: prospects for treating degenerative tissue diseases. Trends Biotechnol. 1992;10:200–207
- . CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci. 1999;40:1687–1694
- A mutation in the RIEG1 gene associated with Peters anomaly. J Med Genet. 1999;36:152–155
- Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch Ophthalmol. 2001;119:96–105
- Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001;68:1295–1298
-
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Proc Natl Acad Sci USA. 1995;92:10177–10181
-
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
Proc Natl Acad Sci USA. 1991;88:9370–9374
- . Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997;38:1972–1982
- Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323:1302–1307
- Mutation in the RB1 gene and their effects on transcription. Mol Cell Biol. 1989;9:4596–4604
-
.
Dominant optic atrophy (OPA1) mapped to chromosome 3q region (I. Linkage analysis).
Hum Molec Genet. 1994;3:977–980
- . Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet. 1995;96:33–38
- . Marners cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet. 1988;34:272–275
- . Association of Wilms tumor with Peters anomaly. Ann Ophthalmol. 1984;16:933–934
- . Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994;7:69–73
- . A gene for isolated congenital ptosis maps to a 3-cM region within 1p32- p34.1. Am J Hum Genet. 1997;60:1150–1157
- cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 1994;160:511–521
-
.
Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins.
J Biochem (Tokyo). 1995;118:921–931
- . Confirmation of linkage of Duanes syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. 2000;106:636–638
- . Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol. 1951;34:41–50
-
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.
Proc Natl Acad Sci USA. 1996;93:13870–13875
- . Riegers syndrome. Pediatrics. 1969;44:564–569
- Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci. 1997;38:1054–1059
- . Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10:301–309
- . Riegers anomaly and glaucoma associated with partial trisomy 16q. Case report. Arch Ophthalmol. 1987;105:323
- Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. Genomics. 1998;48:341–345
- . Meesmanns epithelial dystrophy of the cornea. Am J Ophthalmol. 1977;83:633–642
- . Fundus flavimaculatus. A clinical classification. Arch Ophthalmol. 1976;94:2061–2067
- . The Axenfeld syndrome and the Rieger syndrome. J Med Genet. 1978;15:30–34
- Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. Ophthalmology. 1988;95:46–51
- . Arrhythmogenic right ventricular dysplasia and anterior polar cataract. Am J Med Genet. 1997;73:125–126
- . Fundus flavimaculatus. Arch Ophtalmol Rev Gen Ophtalmol. 1965;25:505–530
- . Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0). Br J Ophthalmol. 2000;84:1376–1379
- The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics. 1987;1:293–296
- Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 1997;91:543–553
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. [letter] Nat Genet. 1998;18:311–312
- A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986;323:643–646
- A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995;10:360–362
- Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet. 2000;26:270–271
- Heterozygous missense mutation in the rod cGMP phosphodiesterase b-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994;7:64–68
- . Predictive testing for retinoblastoma comes of age. Am J Hum Genet. 1997;61:279–281
-
Retinoblastoma mutation: initiation versus progression of cancer. Novak J.F. Osteosarcoma Research Conference 1991, 367-373.
Pittsburgh, Pennsylvannia: Hogrefe and Huber; 1993;
- The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 2002;257:1121–1124
- A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet. 1995;56:396–399
- The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Hum Genet. 2000;107:276–284
- Tyrosinase gene mutations associated with type IB 9Yellow oculocutaneous albinism. Am J Hum Genet. 1991;48:1159–1167
- A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet. 1998;63:1439–1447
- Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000;41:159–165
- PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. [published erratum appears in Nat Genet 1994;8(2):203] Nat Genet. 1994;7:463–471
- . [Congenital central corneal opacities from embrylogical developmental deviation of the anterior segment of the eye (Peters syndrome). 3 cases]. Bull Soc Ophtalmol Fr. 1966;66:917–922
-
.
Hereditary vitelliform macular dystrophy.
Aust NZ J Ophthalmol. 1986;14:221–228
- Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. [letter] Am J Hum Genet. 1995;57:962–964
- . Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997;61:765–768
- . X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet. 1991;12:43–48
- Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology. 2000;107:55–61
- Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet. 1999;36:705–707
- Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194–197
- . Fundus flavimaculatus and Stargardts disease. Am J Ophthalmol. 1976;82:27–39
- Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet. 1998;18:174–176
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24:127–131
-
.
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity.
Proc Natl Acad Sci USA. 1990;87:4809–4813
- Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters anomaly. Nat Genet. 1994;6:168–173
- Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet. 1999;64:1210–1215
- Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci. 2000;41:2080–2086
- . The genetics of cataract: our vision becomes clearer. Am J Hum Genet. 1998;62:520–525
- Peters anomaly. The spectrum of associated ocular and systemic malformations. Ophthalmic Paediatr Genet. 1992;13:137–143
- The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999;65:1261–1267
- Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Ophthalmol. 1982;93:57–70
- . Aniridia caused by a heritable chromosome 11 deletion. Ophthalmology. 1979;86:1173–1183
- A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet. 1999;7:363–367
- Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol. 1991;75:591–597
- . A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990;46:428–433
- . Proctor Lecture. The function of alpha-crystallin. Invest Ophthalmol Vis Sci. 1993;34:10–22
- mtDNA mutations that cause optic neuropathy: how do we know?. Am J Hum Genet. 1998;62:196–202
- . Genetic recombination at the human RH locus: a family study of the red- cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene. Am J Hum Genet. 1996;59:825–833
- . Identification of a partial internal deletion in the RH locus causing the human erythrocyte D-phenotype. [see comments] Blood. 1995;86:784–790
- Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet. 1995;11:468–471
- The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum Genet. 1993;92:379–384
- Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). Am J Hum Genet. 1994;54:675–680
- A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet. 1997;6:47–51
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmanns corneal dystrophy. Nat Genet. 1997;16:184–187
-
.
A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse.
[published erratum appears in Proc Natl Acad Sci USA 86:997, 1989]
Proc Natl Acad Sci USA. 1988;85:4392–4396
- . X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers. Ophthalmology. 1989;96:885–895
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:1898–1908
- Night blindness in Sorsbys fundus dystrophy reversed by vitamin A. Nat Genet. 1995;11:27–32
- Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997;17:190–193
- . Dominant goniodysgenesis with late congenital glaucoma. Am J Ophthalmol. 1972;74:28–33
- Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000;67:1309–1313
- Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001;69:673–684
- Origins of avian ocular and periocular tissues. Exp Eye Res. 1979;29:27–43
- Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology. 1999;106:123–128
- The Rieger syndrome. Am J Med Genet. 1978;2:307–318
- 11p13 deletion, Wilms tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases. Br J Ophthalmol. 1990;74:568–570
- Cataract in gyrate atrophy: clinical and morphologic studies. Invest Ophthalmol Vis Sci. 1983;24:432–436
- Systemic manifestations of gyrate atrophy of the choroid and retina. Ophthalmology. 1981;88:302–306
- Gyrate atrophy of the choroid and retina: early findings. Ophthalmology. 1985;92:394–401
- Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991;354:480–483
- . A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. [see comments] Nat Genet. 1993;3:208–212
- . The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol. 1996;25:1009–1016
-
Mutation of beta-A3/A1-crystallin gene in autosomal dominant zonular cataract with sutural opacities results in a protein with single globular domain.
[abstract]
Invest Ophthalmol Vis Sci. 1999;40:S786
- Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 1990;85:635–642
- A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1993;14:979–987
- A gene for Stargardts disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 1993;5:308–311
- Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with bardet-biedl syndrome. Nat Genet. 2000;26:67–70
- Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet. 1997;6:597–600
- Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. [letter] Am J Hum Genet. 1998;63:274–279
- Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet. 1998;7:1179–1184
- . A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics. 1996;33:523–526
- Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999;117:805–810
- . Congenital motor nystagmus linked to Xq26-q27. Am J Hum Genet. 1999;64:600–607
- Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. Am J Hum Genet. 1999;65:571–574
- Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest. 1991;87:1046–1053
- . Brachymesomelia and Peters anomaly: a new syndrome. Am J Med Genet. 1993;45:416–419
- . Peters anomaly as a consequence of genetic and nongenetic syndromes. Arch Ophthalmol. 1986;104:61–64
-
.
Infantile Optic Atrophy with Dominant Mode of Inheritance.
Copenhagen: Bogtrykkeriet Forum; 1959;
- . Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. Am J Pathol. 1967;50:371–399
- RB1 gene mutations in peripheral blood DNA of patients with isolated unilteral retinoblastoma. Am J Hum Genet. 1999;64:667–668
- A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet. 1999;64:1394–1399
-
.
Mutation and cancer: statistical study of retinoblastoma.
Proc Natl Acad Sci USA. 1971;68:820–823
- Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71:422–425
- RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. J Med Genet. 1997;34:620–626
- . Isolated clinical anophthalmia in an extremely affected Arab kindred. Clin Genet. 1988;33:321–324
- . Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders. Hum Mol Genet. 2000;9:2131–2139
- A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics. 1996;35:539–542
- . Hox genes in vertebrate development. Cell. 1994;78:191–201
- A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997;41:360–369
- . Reevaluation of corneal dystrophies of Bowmans layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea. 1995;14:333–354
-
.
Tyrosinase activity in melanocytes of human albinos.
J Invest Dermatol. 1961;37:185–202
- Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113–1117
-
.
Partial erythrocyte enolase deficiency: a hereditary disorder with variable clinical expression.
[abstract]
Blood. 1986;68:55
- Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci. 2002;43:1843–1849
- Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet. 2000;67:1129–1135
- Mapping X-linked ophthalmic diseases (III. Provisional assignment of the locus for blue cone monochromacy to Xq28). Arch Ophthalmol. 1987;105:1055–1059
- . Immunogold localization of extracellular matrix molecules in Bruchs membrane of the rat. Curr Eye Res. 1989;8:1171–1178
- Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. Ophthalmology. 2002;109:1862–1870
- Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997;6:665–668
- Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet. 1994;94:349–354
- Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001;119:415–420
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000;118:538–543
-
A locus for a human hereditary cataract is closely linked to the gamma- crystallin gene family.
Proc Natl Acad Sci USA. 1987;84:489–492
- . Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet. 1992;41:65–69
- Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. Am J Hum Genet. 1995;57:968–970
- . Sex chromatin and gene action in the mammalian X-chromosome. Am J Med Genet. 1962;14:135–148
- Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2 to a single locus on chromosome 11p13. Genomics. 1992;13:925–930
-
.
Choroideremia.
In:
Traboulsi EI editors. Genetic Diseases of the Eye. New York: Oxford University Press; 1998;
- A practical diagnostic test for choroideremia. Ophthalmology. 1998;105:1637–1640
- Assignment of the chromosomal locus of the human 30-kDal Rh (rhesus) blood group-antigen-related protein (Rh30A) to chromosome region 1p36.13–p34. Cytogenet Cell Genet. 1992;59:261–263
- A new locus for dominant zonular pulverulent cataract, on chromosome 13. Am J Hum Genet. 1997;60:1474–1478
- Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet. 1999;64:1357–1364
- A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q. Am J Hum Genet. 2002;71:1216–1221
- . Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002;110:510–512
- . Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?. Acta Ophthalmol Scand. 1998;76:509–512
- In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am J Hum Genet. 2001;68:782–787
- Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene. Am J Hum Genet. 1999;64:971–985
- Mutations in RPE65 cause Lebers congenital amaurosis. [letter] Nat Genet. 1997;17:139–141
- . A family with eight generations of hereditary cataract. Acta Ophthalmol. 1949;27:537–551
- Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. [letter; comment] Nat Genet. 1998;18:11–12
- Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Lebers hereditary optic neuropathy. Curr Eye Res. 1998;17:403–408
- . Metalloproteinases and their inhibitors in matrix remodeling. Trends Genet. 1990;6:121–125
- Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000;67:960–966
- . Classification of hereditary cataracts in children by linkage analysis. Ophthalmology. 1979;86:1554–1558
- A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet. 2000;9:27–34
- . Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). Ophthalmic Paediatr Genet. 1989;10:69–72
- X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. [see comments] Am J Hum Genet. 1995;57:87–94
- Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 2001;10:1555–1562
-
.
Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders.
Baltimore: The John Hopkins University Press; 1994;
p 261
- . A novel X-linked dominant condition: X-linked congenital isolated ptosis. Am J Hum Genet. 2000;66:1455–1460
- Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet. 2000;67:1000–1003
- Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63:1316–1328
- Autosomal dominant iridogoniodygenesis anomaly maps to 6p25. Am J Hum Genet. 1996;59:1321–1327
- Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet. 1993;5:376–380
-
.
Congenital cataracts.
In:
Goldberg MF editors. Genetic and Metabolic Eye Disease. Boston: Little, Brown; 1974;
- Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11–>q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet Cell Genet. 1996;72:185–186
- Identification of PAHX, a Refsum disease gene. Nat Genet. 1997;17:185–189
- . Chromosome 14-terminal deletion and cataracts. [letter] Arch Ophthalmol. 1992;110:1053
- Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8:71–74
- Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning. Am J Hum Genet. 1997;61:111–119
- . Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. 1996;57:539–548
-
Human ornithine-delta-amino transferase (OAT): cross-hybridizing fragments mapped to chromosome 10 and Xp11.1-21.1.
Am J Hum Genet. 1986;39:A163
- Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q. J Med Genet. 1996;33:714–715
- Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci. 2001;42:816–825
- . ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet. 2000;25:257–258
- Mitochondrial DNA deletions in Progressive external ophthalmoplegia and Kerans-Sayre syndrome. N Engl J Med. 1989;320:1293–1299
-
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Proc Natl Acad Sci USA. 1998;95:3088–3093
- . Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet. 1999;23:393–394
- A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet. 2000;67:1592–1597
- . Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. J Med Genet. 1984;21:52–53
- Kerato-epithelin mutations in four 5q31-liked corneal dystrophies. Nat Genet. 1997;15:247–251
- Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992;2:46–49
- Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics. 1992;13:227–229
- . Gene mapping of ocular diseases. Surv Ophthalmol. 1992;36:285–312
- Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics. 1991;11:263–272
- Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics. 1990;8:286–296
- Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics. 1989;5:727–737
- . Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology. Acta Ophthalmol (Copenh). 1989;67:669–677
- . Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bucklers corneal dystrophy (R-B). One entitity?. Acta Ophthalmol (Copenh). 1989;67:678–684
- The nature and origin of the melanin macroglobule. J Invest Dermatol. 1984;83:134–139
- . Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001;29:315–320
- Molecular genetics of human blue cone monochromacy. Science. 1989;245:831–838
- Genetic heterogeneity among Blue-cone monochromats. Am J Hum Genet. 1993;53:987–1000
- Molecular genetics of inherited variation in human color vision. Science. 1986;232:203–210
- . Analysis of fusion gene and encoded photopigment of colour-blind humans. Nature. 1989;342:679–682
- . Visual pigment gene structure and the severity of color vision defects. Science. 1996;274:801–804
- . Molecular genetics of color vision and color vision defects. Arch Ophthalmol. 2000;118:691–700
- Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001;69:981–988
- Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem. 1998;273:6341–6350
-
.
The clinical findings in Lebers hereditary optic neuroretinopathy. Lebers disease.
Trans Ophthalmol Soc UK. 1985;104:845–852
- . Fundus findings in Lebers hereditary optic neuroretinopathy. Ophthalmic Paediatr Genet. 1985;5:125–130
- A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68:364–372
- The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140–147
- Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet. 1996;59:301–307
- . Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7. Am J Hum Genet. 1988;43:922–928
-
.
Ornithine aminotransferase (OAT) maps to human chromosome 10 and mouse chromosome 7.
Cytogenet Cell Genet. 1985;40:716
-
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, Osaka, in Asians.
Am J Hum Genetics. 2001;68:1036–1042
- Lebers hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet. 1994;31:280–286
- . Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle- closure glaucoma maps to chromosome 11. Am J Hum Genet. 1998;63:1411–1418
- Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet. 1995;57:840–845
- Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J Cell Biol. 1991;115:1077–1089
-
.
A new locus for autosomal recessive retinitis pigmentosa mapping to chromosome 4q32-34.
Invest Ophthalmol Vis Sci. 2000;41:S194
- A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998;7:273–277
- . Autosomal dominant iridogoniodysgenesis. Can J Ophthalmol. 1983;18:7–10
- WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumour. Nature. 1991;353:431–434
- Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992;50:690–699
- Retinal-specific guanylate cyclase gene mutations in Lebers congenital amaurosis. Nat Genet. 1996;14:461–464
- Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics. 1999;57:219–226
-
.
Ueber angeborene Defektbildung der Descemetschen Membran.
Klin Monatsbl Augenheilkd. 1906;44:27–40
105–19
- Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241–247
- A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996;59:613–619
- Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J Med Genet. 2000;37:256–262
- Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248–254
- Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat Genet. 1997;17:449–452
- A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci. 2000;41:3511–3515
- . Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80:389–393
- . Models of open-angle glaucoma prevalence and incidence in the United States. Invest Ophthalmol Vis Sci. 1997;38:83–91
- Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. Hum Genet. 1987;76:121–126
- The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet. 1994;3:959–962
-
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
Am J Med Genet. 1992;51:879–884
- Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet. 2000;106:206–209
- Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077–1079
- . Chromosomal imbalance in the Aniridia-Wilms tumor association: 11p interstitial deletion. Pediatrics. 1978;61:604–610
-
.
Congenital cataract possibly linked to haptoglobin.
Cytogenet Cell Genet. 1984;37:570
-
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q.
ALHG. 1994;54:62–70
- A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361:72–76
- Lebers hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet. 1995;32:81–87
-
The clinical features of Lebers hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.
Brain. 1995;118:319–337
- Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32:326–330
- Linkage of polymorphic congenital cataract to the G-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet. 1996;5:699–703
- Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998;6:291–295
-
.
Microphthalmos in a family.
Ophthalmic Paediatr Genet. 1985;6:121–128
- Retinal fascin: functional nature, subcellular distribution, and chromosomal localization. Invest Ophthalmol Vis Sci. 2000;41:2087–2095
- Genomic structure of the human PAX2 gene. Genomics. 1996;35:258–261
- Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995;9:358–363
- Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995;30:171–177
-
Localization of the fourth locus (GLC1E) for adult-onset primary open- angle glaucoma to the 10p15-p14 region.
Am J Hum Genet. 1998;162:641–652
- Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17:164–170
- . Pigment dispersion syndrome: a clinical study. Br J Ophthalmol. 1981;65:264–269
- . Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells. J Cell Biol. 1986;103:49–62
- Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet. 1999;23:108–112
- . X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet. 1990;38:281–286
-
12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+, K+-ATPase in the cornea.
Proc Natl Acad Sci USA. 1987;84:8125–8129
- . Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science. 1993;259:377–381
- Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci. 1999;40:3–11
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392–399
- . Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum Mol Genet. 1997;6:2109–2116
- Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. Am J Hum Genet. 1998;62:122–129
- Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics. 1995;27:341–344
- . Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch Ophthalmol. 1997;115:651–655
-
.
Congenital aniridia.
Am J Hum Genet. 1960;12:389–415
- Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47–50
- . Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 1985;29:387–409
- A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant zonular pulverulent cataract, on chromosome 1q. Am J Hum Genet. 1998;62:526–532
-
.
Juvenile Retinoschisis.
In:
Traboulsi EI editors. Genetic Diseases of the Eye. New York: Oxford University Press; 1998;
chap 18
- . Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet. 1973;1:1031–1033
- beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol. 1994;13:571–584
- cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 1992;11:511–522
- North Carolina macular dystrophy is assigned to chromosome 6. Genomics. 1992;13:681–685
- Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 2000;24:79–83
- . A fundus dystrophy with unusual features (late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalized choroidal atrophy with massive pigment proliferation). Br J Ophthalmol. 1949;33:67–97
- . Molecular genetics of oculocutaneous albinism. Semin Dermatol. 1993;12:167–172
-
.
Ueber familiare, progressive Degeneration in der Makulagegend des Auges.
Albrecht von Graefes Arch Klin Exp Ophthal. 1909;71:534–549
- Abnormal dark adaptation and rhodopsin kinetics in Sorsbys fundus dystrophy. Invest Ophthalmol Vis Sci. 1992;33:1633–1636
-
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Hum Gene Ther. 1998;103:328–333
- . Identification of three different truncating mutationsin cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997;6:641–647
- Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996;36:142–150
- . Congenital central corneal leukoma (Peters anomaly). Am J Ophthalmol. 1976;81:173–193
- Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000;25:79–82
- Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668–670
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199–202
- Genetic linkage of vitelliform macular degeneration (Bests disease) to chromosome 11q13. Nat Genet. 1992;1:246–250
-
Sundin OH, Yang JM, Li Y, et al: Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 25:289–2000
-
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
Hum Mol Genet. 1999;18:299–305
- . Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol. 1974;58:907–916
- Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318:129–133
- Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet. 2001;28:123–124
- Positional cloning and characterization of a paired box- and homeobox- containing gene from the aniridia region. Cell. 1991;67:1059–1074
- A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol. 1998;126:17–28
- L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina. Clin Chim Acta. 1977;79:371–377
-
.
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Proc Natl Acad Sci USA. 1977;74:5159–5161
- A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies usher syndrome type 1C. Nat Genet. 2000;26:51–55
- Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25:462–466
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Mol Cell. 2001;8:375–381
-
.
Die Spezifitat angeborener und erworbener Starformen fur die einzelnen Linsenzonen.
Graefe Arch Klin Exp Ophthal. 1922;108:219–228
- Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol. 1998;116:351–358
- Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001;42:2395–2400
-
.
Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideoretinalis hereditaria), beobachet im Kanton Zurich.
Klin Monatsbl Augenheilkd. 1938;100:840–858
- Mitochondrial DNA mutation associated with Lebers hereditary optic neuropathy. Science. 1988;242:1427–1430
- . Classification of microphthalmos and coloboma. J Med Genet. 1993;30:664–669
-
.
Norries disease. A congenital progressive oculo-acoustico-cerebral degeneration.
Acta Ophthalmol (Copenh). 1966;(Suppl):1–47
89
- . Deletion mapping of a retinal cone-dystrophy: assignment to 18q211. Am J Med Genet. 1991;39:288–293
- . Familial hypoplasia of the iris stroma associated with glaucoma. Br J Ophthalmol. 1969;53:433–438
- Sorsbys fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet. 1994;7:158–161
- . Bests vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. Genomics. 1994;20:267–274
- Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60–61
- . Simple microphthalmos. Arch Ophthalmol. 1989;107:1625–1630
- . Complex microphthalmos. Arch Ophthalmol. 1989;107:1619–1624
- Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet. 1992;50:498–507
-
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
Am J Med Genet. 1992;51:444–446
- A small deletion of 16q23.1–>16q24.2 [del(16)(q23.1q24.2).ish del(16) (q23.1q24.2)(D16S395+, D16S348−, P5432+)] in a boy with iris coloboma and minor anomalies. Am J Med Genet. 1997;70:371–376
- Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet. 2000;66:1199–1210
- Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 1998;63:1549–1552
- Homozygosity mapping of the Achromatopsia locus in the Pingelapese. Am J Hum Genet. 1999;64:1679–1685
- Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. [see comments] Am J Hum Genet. 1997;60:296–304
- GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999;117:237–241
- CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69:722–737
- Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics. 1998;51:325–331 19983:70-34
-
.
Inherited disorders of pigmentation.
Clin Dermatol. 1985;3:
70-34
-
Albinism.
In:
Stanbury JB, Wyngaarden JB, Fredrickson DS, et al. editor. The Metabolic Basis of Inherited Disease. ed 5. New York: McGraw-Hill; 1983;p. 2905–2947
-
.
Albinism.
In:
Scriver CR, Beaudet AL, Sly WS, Valle D editor. The Metabolic Basis of Inherited Disease. ed 6. New York: McGraw-Hill; 1989;
- Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics. 1999;55:2–9
- . Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. Hum Genet. 1998;102:493–494
- Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999;22:188–191
- Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1996;335:1770–1771
- . Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmic Genet. 2001;22:69–75
- A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet. 1999;64:900–904
- . A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998;63:1419–1424
- Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am J Med Genet. 1998;78:461–467
- A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27:89–93
- . Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activity. Pigment Cell Res. 1994;7:131–140
☆ The authors reported no proprietary or commercial interest in any product mentioned or concept discussed in this manuscript. The authors are very grateful for many helpful comments from Elise Héon, Muriel Kayser-Kupfer, Paul Sieving, and Michael Walter who read all or part of the manuscript.
PII: S0039-6257(03)00177-2
doi: 10.1016/j.survophthal.2003.12.003
© 2004 Elsevier Inc. All rights reserved.
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Survey of Ophthalmology
Volume 49, Issue 2
, Pages 159-196
, March 2004
