Survey of Ophthalmology
Volume 46, Issue 2 , Pages 149-163 , September 2001

Autosomal Dominant Stargardt-Like Macular Dystrophy

  • Larry A Donoso, MD, PhD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USA
    • Corresponding Author InformationReprint address: Larry A. Donoso, MD, PhD, Thomas D. Duane Professor of Ophthalmology, Wills Eye Hospital, 900 Walnut Street, Philadelphia, PA 19107.
    • ,
  • Albert O Edwards, MD, PhD

      Affiliations

    • Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX USA
    • ,
  • Arcilee Frost, MA

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USA
    • ,
  • Tamara Vrabec, MD

      Affiliations

    • Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USA
    • ,
  • Edwin M Stone, MD, PhD

      Affiliations

    • Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA
    • ,
  • Gregory S Hageman, PhD

      Affiliations

    • Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA
    • ,
  • Thomas Perski, MS

      Affiliations

    • Macular Degeneration International, Tucson, AZ, USA

References 

  1. Aaberg TM. Stargardts disease and fundus flavimaculatus (evaluation of morphologic progression and intrafamilial co-existence). Trans Am Ophthalmol Soc. 1986;84:453–487
  2. Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;17:122
  3. Allikmets R, Singh N, Sun H, et al.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236–246
  4. Armstrong JD, Meyer D, Xu S, Elfervig JL. Long-term follow-up of Stargardts disease and fundus flavimaculatus. Ophthalmology. 1998;105:448–457discussion 457–8
  5. Bither PP, Berns LA. Dominant inheritance of Stargardts disease. J Am Optom Assoc. 1988;59:112–117
  6. Cho E, Hung S, Willett WC, et al.  Prospective study of dietary fat and the risk of age-related macular degeneration. Am J Clin Nutr. 2001;73:209–218
  7. Cibis GW, Morey M, Harris DJ. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol. 1980;98:1785–1789
  8. De Laey JJ. Flecked retina disorders. Bull Soc Belge Ophthalmol. 1993;249:11–22
  9. Dharmaraj S, Li Y, Robitaille JM, et al.  A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet. 2000;66:319–326
  10. Donoso LA, Frost AT, Stone E. Autosomal dominant stargardt-like macular dystrophy (founder effect and reassessment of genetic heterogeneity). Arch Ophthalmol. 2001;119:564–570
  11. Edwards AO, Donoso LA, Ritter R: A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein involved in very long chain fatty acid synthesis. In Press, 2001
  12. Edwards AO, Miedziak A, Vrabec T, et al.  Autosomal dominant Stargardt-like macular dystrophy (I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14). Am J Ophthalmol. 1999;127:426–435
  13. Fishman GA. Inherited macular dystrophies (a clinical overview). Aust NZ J Ophthalmol. 1990;18:123–128
  14. Forsius H, Erkkila H, Eriksson AW. Rod-cone dystrophy of the retina. Continuation of a family study described in 1923. Acta Ophthalmol (Copenh). 1990;68:2–10
  15. Godley BF, Tiffin PA, Evans K, et al.  Clinical features of progressive bifocal chorioretinal atrophy (a retinal dystrophy linked to chromosome 6q). Ophthalmology. 1996;103:893–898
  16. Griesinger IB, Sieving PA, Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 2000;41:248–255
  17. Guyer DR, Yannuzzi LA, Chang S, et al.  Retina-Vitreous-Macula. Philadelphia: W.B. Saunders, Inc; 1999;
  18. Jackson MR, Nilsson T, Peterson PA. Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO J. 1990;9:3153–3162
  19. Karel I: [Fundus flavimaculatus]. Cesk Oftalmol 24: 244–8, 1968
  20. Kelsell RE, Godley BF, Evans K, et al.  Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet. 1995;4:1653–1656
  21. Khaliq S, Hameed A, Ismail M, et al.  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
  22. Kimura K, Isashiki Y, Sonoda S, et al.  Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration. Am J Ophthalmol. 2000;130:769–773
  23. Klien BA, Krill AE. Fundus flavimaculatus. Clinical, functional and histopathologic observations. Am J Ophthalmol. 1967;64:3–23
  24. Kniazeva M, Chiang MF, Morgan B, et al.  A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet. 1999;64:1394–1399
  25. Kniazeva M, Traboulsi EI, Yu Z, et al.  A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am J Ophthalmol. 2000;130:197–202
  26. Kniazeva MF, Chiang MF, Cutting GR, et al.  Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet. 1999;20:71–81
  27. Krill A. Hereditary Retinal and Choroidal Diseases. Hagerstown, MD: Harper and Roe; 1977;
  28. Krill AE, Deutman AF. Dominant macular degenerations. The cone dystrophies. Am J Ophthalmol. 1972;73:352–369
  29. Lagali PS, MacDonald IM, Griesinger IB, et al.  Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. Can J Ophthalmol. 2000;35:315–324
  30. Lopez PF, Maumenee IH, de la Cruz Z, Green WR. Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation. Ophthalmology. 1990;97:798–809
  31. MacDonald IM, Mah DY. Summary of heritable ocular disorders and selected systemic conditions with eye findings. Ophthalmic Genet. 2000;21:29–49
  32. Mansour AM. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica. 1992;205:138–143
  33. Maugeri A, van Driel MA, van de Pol DJ, et al.  The 2588G to C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet. 1999;64:1024–1035
  34. Merin S, Landau J. Abnormal findings relatives of patients with juvenile hereditary macular degeneration (Stargardts disease). Ophthalmologica. 1970;161:1–10
  35. Nathans J, Davenport CM, Maumenee IH, et al.  Molecular genetics of human blue cone monochromacy. Science. 1989;245:831–838
  36. Nathans J, Maumenee IH, Zrenner E, et al.  Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet. 1993;53:987–1000
  37. Organisciak DT, Darrow RM, Jiang YL, Blanks JC. Retinal light damage in rats with altered levels of rod outer segment docosahexaenoate. Invest Ophthalmol Vis Sci. 1996;37:2243–2257
  38. Petrukhin K, Koisti MJ, Bakall B. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241–247
  39. Puech B, Hache JC, Turut P, Francois P. X-shaped macular dystrophy with flavimaculatus flecks. Ophthalmologica. 1989;199:146–157
  40. Rapp LM, Maple SS, Choi JH. Lutein and zeaxanthin concentrations in rod outer segment membranes from perifoveal and peripheral human retina. Invest Ophthalmol Vis Sci. 2000;41:1200–1209
  41. Rozet JM, Gerber S, Ghazi I, et al.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease (evidence of clinical heterogeneity at this locus). J Med Genet. 1999;36:447–451
  42. Ruiz A, Borrego S, Marcos I, Antinolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet. 1998;62:1452–1459
  43. Sauer CG, Gehrig A, Warneke-Wittstock R, et al.  Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17:164–170
  44. Sauer CG, Schworm HD, Ulbig M, et al.  An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J Med Genet. 1997;34:961–966
  45. Shanklin J, Whittle E, Fox BG. Eight histidine residues are catalytically essential in a membrane- associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase. Biochemistry. 1994;33:12787–12794
  46. Small KW, Udar N, Yelchits S, et al.  North Carolina macular dystrophy (MCDR1) locus (a fine resolution genetic map and haplotype analysis). Mol Vis. 1999;5:38
  47. Smith W, Mitchell P, Leeder SR. Dietary fat and fish intake and age-related maculopathy. Arch Ophthalmol. 2000;118:401–404
  48. Stargardt K. Familiare progressive Degeneration in der Makulagegend. Zeitschrift Augenheikunde. 1916;35:249
  49. Stargardt K. Ueber familiare, progressive degeneration in der maculagegend des agues. Zeitschrift Augenheikunde. 1913;30:95–116
  50. Stargardt K. Uber familare, progressive Degeneration id der Maculagegend des Auges. Graefes Arch Clin Exp Ophthalmol. 1909;71:535–550
  51. Stefko ST, Zhang K, Gorin MB, Traboulsi EI. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am J Ophthalmol. 2000;130:203–208
  52. Stone EM, Lotery AJ, Munier FL, et al.  A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199–202
  53. Stone EM, Nichols BE, Kimura AE, et al.  Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol. 1994;112:765–772
  54. Suh M, Wierzbicki AA, Lien EL, Clandinin MT. Dietary 20:4n-6 and 22:6n-3 modulates the profile of long- and very- long-chain fatty acids, rhodopsin content, and kinetics in developing photoreceptor cells. Pediatr Res. 2000;48:524–530
  55. Turut P, Puech B: [Heredity in Stargardt disease and fundus flavimaculatus]. Ophtalmologie 3: 187–92, 1989
  56. Turut P, Puech B, Francois P, Hache JC: [Fundus flavimaculatus of dominant heredity (apropos of 2 families). Nosological considerations on Stargardts disease.]. Bull Soc Ophthalmol Fr 75:309–15, 1975
  57. Tvrdik P, Westerberg R, Silve S, et al.  Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. J Cell Biol. 2000;149:707–718
  58. van Kuijk FJ, Buck P. Fatty acid composition of the human macula and peripheral retina. Invest Ophthalmol Vis Sci. 1992;33:3493–3496
  59. Weber BH, Vogt G, Pruett RC, et al.  Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsbys fundus dystrophy. Nat Genet. 1994;8:352–356
  60. Weleber RG, Carr RE, Murphey WH, et al.  Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol. 1993;111:1531–1542
  61. Wells J, Wroblewski J, Keen J, et al.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993;3:213–218
  62. Wijesuriya SD, Evans K, Jay MR, et al.  Sorsbys fundus dystrophy in the British Isles (demonstration of a striking founder effect by microsatellite-generated haplotypes). Genome Res. 1996;6:92–101
  63. Winderickx J, Sanocki E, Lindsey DT, et al.  Defective colour vision associated with a missense mutation in the human green visual pigment gene. Nat Genet. 1992;1:251–256
  64. Zack DJ, Dean M, Molday RS, et al.  What can we learn about age-related macular degeneration from other retinal diseases?. Mol Vis. 1999;5:30
  65. Zhang K, Bither PP, Park R, et al.  A dominant Stargardts macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol. 1994;112:759–764
  66. Zhang K, Kniazeva M, Han M, et al.  A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27:89–93
  67. Zhang K, Kniazeva M, Hutchinson A, et al.  The ABCR gene in recessive and dominant Stargardt diseases (a genetic pathway in macular degeneration). Genomics. 1999;60:234–237

☆ The authors have no commercial or proprietary interest in any product or concept discussed in this article.

PII: S0039-6257(01)00251-X

Survey of Ophthalmology
Volume 46, Issue 2 , Pages 149-163 , September 2001

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