Survey of Ophthalmology
Volume 47, Issue 4 , Pages 357-367 , July 2002

Genetic Animal Models for Retinal Degeneration

References 

  1. Acland GM, Aguirre GD. Retinal degenerations in the dog (IV. Early retinal degeneration (erd) in Norwegian elkhounds). Exp Eye Res. 1987;44:491–521
  2. Acland GM, Aguirre GD, Ray J, et al.  Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001;28:92–95
  3. Acland GM, Fletcher RT, Gentleman S, et al.  Non-allelism of three genes (rcd1, rcd2 and erd) for early-onset hereditary retinal degeneration. Exp Eye Res. 1989;49:983–998
  4. Acland GM, Ray K, Mellersh CS, et al.  A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics. 1999;59:134–142
  5. Acland GM, Ray K, Mellersh CS, et al.  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
  6. Aguirre G, Alligood J, OBrien P, Buyukmihci N. Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci. 1982;23:610–630
  7. Aguirre GD, Acland GM. Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res. 1988;46:663–687
  8. Aguirre GD, Baldwin V, Pearce-Kelling S. Congenital stationary night blindness in the dog (common mutation in the RPE65 gene indicates founder effect). Mol Vis. 1998;4:23
  9. Aguirre GD, Rubin LF. The electroretinogram in dogs with inherited cone degeneration. Invest Ophthalmol. 1975;14:840–847
  10. Akhmedov NB, Piriev NI, Chang B, et al.  A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci USA. 2000;97:5551–5556
  11. al-Ubaidi MR, Hollyfield JG, Overbeek PA, Baehr W. Photoreceptor degeneration induced by the expression of simian virus 40 large tumor antigen in the retina of transgenic mice. Proc Natl Acad Sci USA. 1992;89:1194–1198
  12. Ali RR, Sarra GM, Stephens C, et al.  Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet. 2000;25:306–310
  13. Andre E, Conquet F, Steinmayr M, et al.  Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice. EMBO J. 1998;17:3867–3877
  14. Aquirre G, Farber D, Lolley R, et al.  Rod-cone dysplasia in Irish setters (a defect in cyclic GMP metabolism in visual cells). Science. 1978;201:1133–1134
  15. Banin E, Cideciyan AV, Aleman TS, et al.  Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron. 1999;23:549–557
  16. Berger W, van de Pol D, Bachner D, et al.  An animal model for Norrie disease (ND) (gene targeting of the mouse ND gene). Hum Mol Genet. 1996;5:51–59
  17. Biel M, Seeliger M, Pfeifer A. Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acad Sci USA. 1999;96:7553–7557
  18. Blanks JC, Spee C. Retinal degeneration in the pcd/pcd mutant mouse (accumulation of spherules in the interphotoreceptor space). Exp Eye Res. 1992;54:637–644
  19. Bowes C, Li T, Frankel WN, et al.  Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad Sci USA. 1993;90:2955–2959
  20. Calvert PD, Krasnoperova NV, Lyubarsky AL, et al.  Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha-subunit. Proc Natl Acad Sci USA. 2000;97:13913–13918
  21. Campochiaro PA, Chang M, Ohsato M, et al.  Retinal degeneration in transgenic mice with photoreceptor-specific expression of a dominant-negative fibroblast growth factor receptor. J Neurosci. 1996;16:1679–1688
  22. Chang B, Bronson RT, Hawes NL, et al.  Retinal degeneration in motor neuron degeneration (a mouse model of ceroid lipofuscinosis). Invest Ophthalmol Vis Sci. 1994;35:1071–1076
  23. Chang B, Heckenlively JR, Hawes NL, Roderick TH. New mouse primary retinal degeneration (rd-3). Genomics. 1993;16:45–49
  24. Chang GQ, Hao Y, Wong F. Apoptosis (final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice). Neuron. 1993;11:595–605
  25. Chen CK, Burns ME, He W, et al.  Slowed recovery of rod photoresponse in mice lacking the GTPase accelerating protein RGS9-1. Nature. 2000;403:557–560
  26. Chen CK, Burns ME, Spencer M, et al.  Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. Proc Natl Acad Sci USA. 1999;96:3718–3722
  27. Chen J, Flannery JG, LaVail MM, et al.  bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations. Proc Natl Acad Sci USA. 1996;93:7042–7047
  28. Chen J, Makino CL, Peachey NS. Mechanisms of rhodopsin inactivation in vivo as revealed by a COOH-terminal truncation mutant. Science. 1995;267:374–377
  29. Chen J, Simon MI, Matthes MT. Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness). Invest Ophthalmol Vis Sci. 1999;40:2978–2982
  30. Chen P, Hao W, Rife L. A photic visual cycle of rhodopsin regeneration is dependent on Rgr. Nat Genet. 2001;28:256–260
  31. Clarke G, Goldberg AF, Vidgen D, et al.  Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nat Genet. 2000;25:67–73
  32. Connell G, Bascom R, Molday L, et al.  Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA. 1991;88:723–726
  33. Curtis R, Barnett KC, Leon A. An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings. Invest Ophthalmol Vis Sci. 1987;28:131–139
  34. DCruz PM, Yasumura D, Weir J, et al.  Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum Mol Genet. 2000;9:645–651
  35. Dekomien G, Runte M, Godde R, Epplen JT. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet. 2000;90:261–267
  36. DiLoreto D, Cox C, Grover DA. The influences of age, retinal topography, and gender on retinal degeneration in the Fischer 344 rat. Brain Res. 1994;647:181–191
  37. DiLoreto D, Ison JR, Bowen GP. A functional analysis of the age-related degeneration in the Fischer 344 rat. Curr Eye Res. 1995;14:303–310
  38. Dubois-Dauphin M, Poitry-Yamate C, de Bilbao F, et al.  Early postnatal Muller cell death leads to retinal but not optic nerve degeneration in NSE-Hu-Bcl-2 transgenic mice. Neuroscience. 2000;95:9–21
  39. Eversole-Cire P, Concepcion FA, Simon MI, et al.  Synergistic effect of Bcl-2 and BAG-1 on the prevention of photo-receptor cell death. Invest Ophthalmol Vis Sci. 2000;41:1953–1961
  40. Faktorovich EG, Steinberg RH, Yasumura D, et al.  Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor. Nature. 1990;347:83–86
  41. Farber DB, Danciger JS, Aguirre G. The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron. 1992;9:349–356
  42. Favor J, Sandulache R, Neuhauser-Klaus A, et al.  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
  43. Furukawa T, Morrow EM, Li T, et al.  Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat Genet. 1999;23:466–470
  44. Geiger K, Howes E, Gallina M, et al.  Transgenic mice expressing IFN-gamma in the retina develop inflammation of the eye and photoreceptor loss. Invest Ophthalmol Vis Sci. 1994;35:2667–2681
  45. Geng Y, Whoriskey W, Park MY, et al.  Rescue of cyclin D1 deficiency by knockin cyclin E. Cell. 1999;97:767–777
  46. Geng Y, Yu Q, Sicinska E. Deletion of the p27Kip1 gene restores normal development in cyclin D1-deficient mice. Proc Natl Acad Sci USA. 2001;98:194–199
  47. Green ES, Menz MD, LaVail MM, Flannery JG. Characterization of rhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:1546–1553
  48. Grondona JM, Kastner P, Gansmuller A, et al.  Retinal dysplasia and degeneration in RARbeta2/RARgamma2 compound mutant mice. Development. 1996;122:2173–2188
  49. Gropp KE, Szel A, Huang JC, et al.  Selective absence of cone outer segment beta 3-transducin immunoreactivity in hereditary cone degeneration (cd). Exp Eye Res. 1996;63:285–296
  50. Hafezi F, Marti A, Munz K, Reme CE. Light-induced apoptosis (differential timing in the retina and pigment epithelium). Exp Eye Res. 1997;64:963–970
  51. Hagstrom SA, Duyao M, North MA, Li T. Retinal degeneration in tulp1-/- mice (vesicular accumulation in the interphotoreceptor matrix). Invest Ophthalmol Vis Sci. 1999;40:2795–2802
  52. Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet. 2001;10:1619–1626
  53. Hawes NL, Chang B, Hageman GS, et al.  Retinal degeneration 6 (rd6) (a new mouse model for human retinitis punctata albescens). Invest Ophthalmol Vis Sci. 2000;41:3149–3157
  54. Hong DH, Pawlyk BS, Shang J, et al.  A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA. 2000;97:3649–3654
  55. Hong DH, Yue G, Adamian M, Li T. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem. 2001;276:12091–12099
  56. Huang PC, Gaitan AE, Hao Y, et al.  Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc Natl Acad Sci USA. 1993;90:8484–8488
  57. Humphries MM, Rancourt D, Farrar GJ, et al.  Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet. 1997;15:216–219
  58. Ikeda S, Shiva N, Ikeda A, et al.  Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum Mol Genet. 2000;9:155–163
  59. Incerti B, Cortese K, Pizzigoni A, et al.  Oa1 knock-out (new insights on the pathogenesis of ocular albinism type 1). Hum Mol Genet. 2000;9:2781–2788
  60. Jiang H, Lyubarsky A, Dodd R, et al.  Phospholipase C beta 4 is involved in modulating the visual response in mice. Proc Natl Acad Sci USA. 1996;93:14598–14601
  61. Joseph RM, Li T. Overexpression of Bcl-2 or Bcl-XL transgenes and photoreceptor degeneration. Invest Ophthalmol Vis Sci. 1996;37:2434–2446
  62. Kedzierski W, Lloyd M, Birch DG, et al.  Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. Invest Ophthalmol Vis Sci. 1997;38:498–509
  63. Kedzierski W, Nusinowitz S, Birch D, et al.  Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 2001;98:7718–7723
  64. Keller SA, Jones JM, Boyle A, et al.  Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 1994;23:309–320
  65. Kleyn PW, Fan W, Kovats SG, et al.  Identification and characterization of the mouse obesity gene tubby (a member of a novel gene family). Cell. 1996;85:281–290
  66. Kobayashi A, Higashide T, Hamasaki D, et al.  HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Invest Ophthalmol Vis Sci. 2000;41:3268–3277
  67. Kommonen B, Karhunen U. A late receptor dystrophy in the Labrador retriever. Vision Res. 1990;30:207–213
  68. Kommonen B, Penn JS, Kylma T, et al.  Early morphometry of a retinal dystrophy in Labrador retrievers. Acta Ophthalmol (Copenh). 1994;72:203–210
  69. Lai YL, Jacoby RO, Jonas AM. Age-related and light-associated retinal changes in Fischer rats. Invest Ophthalmol Vis Sci. 1978;17:634–638
  70. LaVail MM, Blanks JC, Mullen RJ. Retinal degeneration in the pcd cerebellar mutant mouse. I. Light microscopic and autoradiographic analysis. J Comp Neurol. 1982;212:217–230
  71. LaVail MM, Gorrin GM, Yasumura D, Matthes MT. Increased susceptibility to constant light in nr and pcd mice with inherited retinal degenerations. Invest Ophthalmol Vis Sci. 1999;40:1020–1024
  72. LaVail MM, White MP, Gorrin GM, et al.  Retinal degeneration in the nervous mutant mouse. I. Light microscopic cytopathology and changes in the interphotoreceptor matrix. J Comp Neurol. 1993;333:168–181
  73. Lem J, Flannery JG, Li T, et al.  Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc Natl Acad Sci USA. 1992;89:4422–4426
  74. Lem J, Krasnoperova NV, Calvert PD, et al.  Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc Natl Acad Sci USA. 1999;96:736–741
  75. Leon A, Hussain AA, Curtis R. Autosomal dominant rod-cone dysplasia in the Rdy cat. 2. Electrophysiological findings. Exp Eye Res. 1991;53:489–502
  76. Levine EM, Close J, Fero M, et al.  p27(Kip1) regulates cell cycle withdrawal of late multipotent progenitor cells in the mammalian retina. Dev Biol. 2000;219:299–314
  77. Lewin AS, Drenser KA, Hauswirth WW, et al.  Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat Med. 1998;4:967–971
  78. Li T, Franson WK, Gordon JW, et al.  Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci USA. 1995;92:3551–3555
  79. Li T, Sandberg MA, Pawlyk BS. Effect of vitamin A supplementation on rhodopsin mutants threonine-17 — > methionine and proline-347 —> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci USA. 1998;95:11933–11938
  80. Li T, Snyder WK, Olsson JE, Dryja TP. Transgenic mice carrying the dominant rhodopsin mutation P347S (evidence for defective vectorial transport of rhodopsin to the outer segments). Proc Natl Acad Sci USA. 1996;93:14176–14181
  81. Li ZY, Wong F, Chang JH, et al.  Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1998;39:808–819
  82. Libby RT, Steel KP. Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Invest Ophthalmol Vis Sci. 2001;42:770–778
  83. Liou GI, Fei Y, Peachey NS, et al.  Early onset photoreceptor abnormalities induced by targeted disruption of the interphotoreceptor retinoid-binding protein gene. J Neurosci. 1998;18:4511–4520
  84. Liu X, Udovichenko IP, Brown SD, et al.  Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci. 1999;19:6267–6274
  85. Liu X, Wu TH, Stowe S, et al.  Defective phototransductive disk membrane morphogenesis in transgenic mice expressing opsin with a mutated N-terminal domain. J Cell Sci. 1997;110:2589–2597
  86. Lyubarsky AL, Naarendorp F, Zhang X, et al.  RGS9-1 is required for normal inactivation of mouse cone phototransduction. Mol Vis. 2001;7:71–78
  87. Ma J, Norton JC, Allen AC, et al.  Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II. Genomics. 1995;28:212–219
  88. Machida S, Chaudhry P, Shinohara T, et al.  Lens Epithelium-Derived Growth Factor Promotes Photoreceptor Survival in Light-Damaged and RCS Rats. Invest Ophthalmol Vis Sci. 2001;42:1087–1095
  89. Machida S, Kondo M, Jamison JA, et al.  P23H rhodopsin transgenic rat (correlation of retinal function with histopathology). Invest Ophthalmol Vis Sci. 2000;41:3200–3209
  90. Marszalek JR, Liu X, Roberts EA, et al.  Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell. 2000;102:175–187
  91. Mata NL, Weng J, Travis GH. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc Natl Acad Sci USA. 2000;97:7154–7159
  92. McCall MA, Gregg RG, Merriman K, et al.  Morphological and physiological consequences of the selective elimination of rod photoreceptors in transgenic mice. Exp Eye Res. 1996;63:35–50
  93. Mendez A, Burns ME, Sokal I. Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors. Proc Natl Acad Sci USA. 2001;98:9948–9953
  94. Messer A, Plummer J, MacMillen MC, Frankel WN. Genetics of primary and timing effects in the mnd mouse. Am J Med Genet. 1995;57:361–364
  95. Mosinger Ogilvie J, Deckwerth TL, Knudson CM, Korsmeyer SJ. Suppression of developmental retinal cell death but not of photoreceptor degeneration in Bax-deficient mice. Invest Ophthalmol Vis Sci. 1998;39:1713–1720
  96. Mullen RJ, LaVail MM. Inherited retinal dystrophy (primary defect in pigment epithelium determined with experimental rat chimeras). Science. 1976;192:799–801
  97. Naash MI, Hollyfield JG, al-Ubaidi MR, Baehr W. Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci USA. 1993;90:5499–5503
  98. Nakayama K, Ishida N, Shirane M, et al.  Mice lacking p27(Kip1) display increased body size, multiple organ hyperplasia, retinal dysplasia, and pituitary tumors. Cell. 1996;85:707–720
  99. Narfstrom K, Ehinger B, Bruun A. Immunohistochemical studies of cone photoreceptors and cells of the inner retina in feline rod-cone degeneration. Vet Ophthalmol. 2001;4:141–145
  100. Nir I, Ransom N, Smith SB. Ultrastructural features of retinal dystrophy in mutant vitiligo mice. Exp Eye Res. 1995;61:363–377
  101. Noben-Trauth K, Naggert JK, North MA, Nishina PM. A candidate gene for the mouse mutation tubby. Nature. 1996;380:534–538
  102. Ohlemiller KK, Hughes RM, Mosinger Ogilvie J, et al.  Cochlear and retinal degeneration in the tubby mouse. Neuroreport. 1995;6:845–849
  103. Olsson JE, Gordon JW, Pawlyk BS, et al.  Transgenic mice with a rhodopsin mutation (Pro23His) (a mouse model of autosomal dominant retinitis pigmentosa). Neuron. 1992;9:815–830
  104. Otteson DC, Shelden E, Jones JM, et al.  Pax2 expression and retinal morphogenesis in the normal and Krd mouse. Dev Biol. 1998;193:209–224
  105. Pardue MT, McCall MA, LaVail MM, et al.  A naturally occurring mouse model of X-linked congenital stationary night blindness. Invest Ophthalmol Vis Sci. 1998;39:2443–2449
  106. Petersen-Jones SM, Entz DD, Sargan DR. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci. 1999;40:1637–1644
  107. Petters RM, Alexander CA, Wells KD, et al.  Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat Biotechnol. 1997;15:965–970
  108. Pittler SJ, Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci USA. 1991;88:8322–8326
  109. Portera-Cailliau C, Sung CH, Nathans J, Adler R. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa. Proc Natl Acad Sci USA. 1994;91:974–978
  110. Quadro L, Blaner WS, Salchow DJ, et al.  Impaired retinal function and vitamin A availability in mice lacking retinol-binding protein. EMBO J. 1999;18:4633–4644
  111. Redmond TM, Yu S, Lee E, et al.  Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998;20:344–351
  112. Ren JC, Stubbs EB, Matthes MT, et al.  Retinal degeneration in the nervous mutant mouse. IV. Inner retinal changes. Exp Eye Res. 2001;72:243–252
  113. Richter M, Gottanka J, May CA, et al.  Retinal vasculature changes in Norrie disease mice. Invest Ophthalmol Vis Sci. 1998;39:2450–2457
  114. Ripps H, Peachey NS, Xu X, et al.  The rhodopsin cycle is preserved in IRBP knockout mice despite abnormalities in retinal structure and function. Vis Neurosci. 2000;17:97–105
  115. Roderick TH, Chang B, Hawes NL, Heckenlively JR. A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics. 1997;42:393–396
  116. Salchow DJ, Gouras P, Doi K, et al.  A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors. Invest Ophthalmol Vis Sci. 1999;40:3262–3267
  117. Seaton AD, Turner JE. RPE transplants stabilize retinal vasculature and prevent neovascularization in the RCS rat. Invest Ophthalmol Vis Sci. 1992;33:83–91
  118. Semple-Rowland SL, Cheng KM. rd and rc chickens carry the same GC1 null allele (GUCY1*). Exp Eye Res. 1999;69:579–581
  119. Semple-Rowland SL, Lee NR, Van Hooser JP, et al.  A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA. 1998;95:1271–1276
  120. Sidman RL, Kosaras B, Tang M. Pigment epithelial and retinal phenotypes in the vitiligo mivit, mutant mouse. Invest Ophthalmol Vis Sci. 1996;37:1097–1115
  121. Sidman RL, Tang M, Kosaras B, et al.  Mapping and retinal phenotype of the hugger mutation in the mouse. Mamm Genome. 1997;8:399–402
  122. Smith SB. C57BL/6J-vit/vit mouse model of retinal degeneration (light microscopic analysis and evaluation of rhodopsin levels). Exp Eye Res. 1992;55:903–910
  123. Smith SB, Hamasaki DI. Electroretinographic study of the C57BL/6-mivit/mivit mouse model of retinal degeneration. Invest Ophthalmol Vis Sci. 1994;35:3119–3123
  124. Soucy E, Wang Y, Nirenberg S, et al.  A novel signaling pathway from rod photoreceptors to ganglion cells in mammalian retina. Neuron. 1998;21:481–493
  125. Stubdal H, Lynch CA, Moriarty A, et al.  Targeted deletion of the tub mouse obesity gene reveals that tubby is a loss-of-function mutation. Mol Cell Biol. 2000;20:878–882
  126. Suber ML, Pittler SJ, Qin N, et al.  Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA. 1993;90:3968–3972
  127. Sung CH, Makino C, Baylor D, Nathans J. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci. 1994;14:5818–5833
  128. Sung CH, Tai AW. Rhodopsin trafficking and its role in retinal dystrophies. Int Rev Cytol. 2000;195:215–267
  129. Tai AW, Chuang JZ, Bode C, et al.  Rhodopsins carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1. Cell. 1999;97:877–887
  130. Torres M, Gomez-Pardo E, Gruss P. Pax2 contributes to inner ear patterning and optic nerve trajectory. Development. 1996;122:3381–3391
  131. Travis GH, Groshan KR, Lloyd M, Bok D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron. 1992;9:113–119
  132. Tsang SH, Gouras P, Yamashita CK, et al.  Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science. 1996;272:1026–1029
  133. Tsang SH, Yamashita CK, Doi K, et al.  In vivo studies of the gamma subunit of retinal cGMP-phophodiesterase with a substitution of tyrosine-84. Biochem J. 2001;353:467–474
  134. Tso MO, Li WW, Zhang C, et al.  A pathologic study of degeneration of the rod and cone populations of the rhodopsin Pro347Leu transgenic pigs. Trans Am Ophthalmol Soc. 1997;95:467–479discussion 479–83
  135. Ulshafer RJ, Allen C, Dawson WW, Wolf ED. Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG. Exp Eye Res. 1984;39:125–135
  136. Ulshafer RJ, Allen CB. Hereditary retinal degeneration in the Rhode Island Red chicken (ultrastructural analysis). Exp Eye Res. 1985;40:865–877
  137. Valle DL, Boison AP, Jezyk P, Aguirre G. Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci. 1981;20:251–255
  138. van den Hurk JA, Hendriks W, van de Pol DJ, et al.  Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997;6:851–858
  139. Van Hooser JP, Aleman TS, He YG, et al.  Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci USA. 2000;97:8623–8628
  140. Veske A, Nilsson SE, Narfstrom K, Gal A. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics. 1999;57:57–61
  141. Voaden MJ, Curtis R, Barnett KC, et al.  Dominant rod-cone dysplasia in the Abyssinian cat. Prog Clin Biol Res. 1987;247:369–380
  142. Wang T, Lawler AM, Steel G, et al.  Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration. Nat Genet. 1995;11:185–190
  143. Wang W, Acland GM, Ray K, Aguirre GD. Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism. Exp Eye Res. 1999;69:445–453
  144. White FA, Keller-Peck CR, Knudson CM. Widespread elimination of naturally occurring neuronal death in Bax-deficient mice. J Neurosci. 1998;18:1428–1439
  145. Witzel DA, Smith EL, Wilson RD, Aguirre GD. Congenital stationary night blindness (an animal model). Invest Ophthalmol Vis Sci. 1978;17:788–795
  146. Woch G, Aramant RB, Seiler MJ, et al.  Retinal transplants restore visually evoked responses in rats with photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2001;42:1669–1676
  147. Wrigstad A, Narfstrom K, Nilsson SE. Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study. Doc Ophthalmol. 1994;87:337–354
  148. Wu TH, Ting TD, Okajima TI, et al.  Opsin localization and rhodopsin photochemistry in a transgenic mouse model of retinitis pigmentosa. Neuroscience. 1998;87:709–717
  149. Xu J, Dodd RL, Makino CL, et al.  Prolonged photoresponses in transgenic mouse rods lacking arrestin. Nature. 1997;389:505–509
  150. Yang RB, Robinson SW, Xiong WH, et al.  Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. J Neurosci. 1999;19:5889–5897
  151. Ying S, Jansen HT, Lehman MN, et al.  Retinal degeneration in cone photoreceptor cell-ablated transgenic mice. Mol Vis. 2000;6:101–108
  152. Yu RT, Chiang MY, Tanabe T, et al.  The orphan nuclear receptor Tlx regulates Pax2 and is essential for vision. Proc Natl Acad Sci USA. 2000;97:2621–2625
  153. Yvert G, Lindenberg KS, Picaud S, et al.  Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet. 2000;9:2491–2506
  154. Zeiss CJ, Acland GM, Aguirre GD. Retinal pathology of canine X-linked progressive retinal atrophy, the locus homologue of RP3. Invest Ophthalmol Vis Sci. 1999;40:3292–3304
  155. Zhang Q, Acland GM, Zangerl B, et al.  Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci. 2001;42:2466–2471

 The authors were supported by a grant from the Federal Ministry of Education and Research (Fö. 01KS9602) and the Interdisciplinary Center of Clinical Research Tübingen (IZKF). The authors reported no proprietary or commercial interest in any product mentioned or concept discussed in this article.

PII: S0039-6257(02)00314-4

Survey of Ophthalmology
Volume 47, Issue 4 , Pages 357-367 , July 2002