Genetics of retinitis pigmentosa: Metabolic classification and phenotype/genotype correlations;Génétique des rétinites pigmentaires: Classification métabolique et corrélations phénotype/génotype

Journal Francais d'Ophtalmologie

Volumn 28, Issue 1, 2005, Pages 71-92

  Maubaret, C ^a   Hamel, C ^a,b,c  

^a INSERM   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c HÔPITAL SAINT ELOI   (France)

Author keywords

Genetic; Photoreceptor; Retinal pigment epithelium; Retinitis pigmentosa

Indexed keywords

TRANSCRIPTION FACTOR;

AUTOSOMAL RECESSIVE DISORDER; DISEASE CLASSIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; METABOLIC ACTIVATION; MOLECULAR CLONING; PHOTORECEPTOR; PIGMENT EPITHELIUM; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; REVIEW; SPLICEOSOME;

EID: 13844269126     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(05)81029-0     Document Type: Article

References (161)

1. Puech B, Kostrubiec B, Hache JC, Francois P. Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France. J Fr Ophtalmol, 1991;14:153-64.
2. Berson EL. Retinitis pigmentosa. Invest Ophthalmol Vis Sci, 1993;34:1656-76.
3. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science, 1994;264:1604-8.
4. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science, 2001;293:2256-9.
5. Mansergh FC, Millington-Ward S, Kennan A, Kiang A-S, Humphries M, Farrar GJ, et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MITS2 gene. Am J Hum Genet, 1999;64:971-85.
6. Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 1990;343:364-6.
7. Daiger SP, Sullivan LS, Rossiter BJF. RetNet, the retinal network information. Adresse internet: http://www.sph.uth.tmc.edu/retnet.
8. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol, 1982;66:405-16.
9. Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier J-L. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet, 1990;85:635-42.
10. Gal A, Apfelstedt-Sylla E, Janecke AR, Zrenner E. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Ret Eye Res, 1997;16:51-79.
11. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet, 1992;1:209-13.
12. Colley NJ, Cassill JA, Baker EK, Zuker CS. Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration. Proc Natl Acad Sci USA, 1995;92:3070-4.
13. Farber DB, Lolley RN. Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science, 1974;186:449-51.
14. Aguirre G, Farber D, Lolley R, O'Brien P, Alligood J, Fletcher RT, et al. Retinal degeneration in the dog. III. Abnormal cyclic nucleotide metabolism in rod-cone dysplasia. Exp Eye Res, 1982;35:625-42.
15. Travis GH. Mechanisms of cell death in the inherited retinal degenerations. Am J Hum Genet, 1998;62:503-8.
16. Ho AK, Hashimoto K, Chik CL. 3′,5′-cyclic guanosine monophosphate activates mitogen-activated protein kinase in rat pinealocytes. J Neurochem, 1999;73:598-604.
17. He L, Poblenz AT, Medrano CJ, Fox DA. Lead and calcium produce rod photoreceptor cell apoptosis by opening the mitochondrial permeability transition pore. J Biol Chem, 2000;275:12175-84.
18. Dryja TP, Finn JT, Peng Y-W, McGee TL, Berson EL. Mutations in the gene encoding the α subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA, 1995;92:10177-81.
19. Ulshafer RJ, Garda CA, Hollyfield JG. Sensitivity of photoreceptors to elevated levels of cGMP in the human retina. Invest Ophthalmol Vis Sci, 1980;19:1236-41.
20. Perrault I, Rozet J M, Calvas P, Gerber S, Camuzat A, Dollfus H, et al. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet, 1996;14:461-4.
21. Perrault I, Rozet J-M, Gerber S, Kelsell RE, Souied E, Cabot A, et al. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet, 1999;63:651-4.
22. Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, et al. 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;7:273-7.
23. Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nature Genet, 1996;13:358-60.
24. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet, 1993;4:280-3.
25. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nature Genet, 1994;7:64-8.
26. Wald G. The molecular basis of visual excitation. Nature, 1968;219:800-7.
27. Jahng WJ, David C, Nesnas N, Nakanishi K, Rando RR. A cleavable affinity biotinylating agent reveals a retinoid binding role for RPE65. Biochemistry, 2003;42:6159-68.
28. Shen D, Jiang M, Hao W, Tao L, Salazar M, Fong HK. A human opsin-related gene that encodes a retinaldehyde-binding protein. Biochemistry, 1994;33:13117-25.
29. Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 1999;98:13-23.
30. Sun H, Molday RS, Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem, 1999;274:8269-81.
31. Eldred GE, Lasky MR. Retinal age pigments generated by self-assembling lysosomotropic detergents. Nature, 1993;361:724-6.
32. Kliffen M, van der Schaft TL, Mooy CM, de Jong PT. Morphologic changes in age-related maculopathy. Microsc Res Tech, 1997;36:106-22.
33. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, et al. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nature Genet, 1997;17:198-200.
34. Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nature Genet, 1999;23:393-4.
35. Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nature Genet, 2001;28:123-4.
36. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet, 1997;17:194-7.
37. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet, 1997;17:139-41.
38. Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, et al. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nature Genet, 1998;20:344-51.
39. Woodruff ML, Wang Z, Chung HY, Redmond TM, Fain GL, Lem J. Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Nature Genet, 2003;35:158-164.
40. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet, 1997;15:236-46.
41. Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genet, 1998;18:11-2.
42. Cremers FPM, van de Pol DJR, van Driel M, den Hollander AI, van Haren FJJ, Knoers NVAM, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splicing site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet, 1998;7:355-62.
43. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nature Genet, 1999;22:188-91.
44. Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, et al. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci, 1999;40:3-11.
45. Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nature Genet, 2000;26:270-1.
46. Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, et al. Nrl is required for rod photoreceptor development. Nature Genet, 2001;29:447-52.
47. Yanagi Y, Takezawa S, Kato S. Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development. Invest Ophthalmol Vis Sci, 2002;43:3489-94.
48. Furukawa T, Morrow EM, Li T, Davis FC, Cepko CL. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nature Genet, 1999;23:466-70.
49. Ng L, Hurley JB, Dierks B, Srinivas M, Salto C, Vennstrom B, et al. A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nature Genet, 2001;27:94-8.
50. Kelley MW, Turner JK, Reh TA. Retinoic acid promotes differentiation of photoreceptors in vitro. Development, 1994;120:2091-102.
51. Altshuler D, Lo Turco JJ, Rush J, Cepko C. Taurine promotes the differentiation of a vertebrate retinal cell type in vitro. Development, 1993;119:1317-28.
52. Levine EM, Roelink H, Turner J, Reh TA. Sonic hedgehog promotes rod photoreceptor differentiation in mammalian retinal cells in vitro. J Neurosci, 1997;17:6277-88.
53. Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, et al. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nature Genet, 1999;21:355-6.
54. Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Arch Ophthalmol, 2003;121:793-802.
55. Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet, 1998;63:1307-15.
56. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell, 1997;91:543-53.
57. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nature Genet, 1998;18:311-2.
58. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genet, 2000;24:127-31.
59. Jacobson SG, Roman AJ, Roman MI, Gass JD, Parker JA. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol, 1991;111:446-53.
60. Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, et al. 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;107:276-84.
61. Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol, 2003;121:1316-23.
62. Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, et al. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron, 1997;19:1017-30.
63. Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci USA, 2002;99:473-8.
64. Papermaster DS, Dreyer WJ. Rhodopsin content in the outer segment membranes of bovine and frog retinal rods. Biochemistry, 1974;13:2438-44.
65. Molday RS. Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. Invest Ophthalmol Vis Sci, 1998;39:2491-513.
66. Poetsch A, Molday LL, Molday RS. The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes. J Biol Chem, 2001;276:48009-16.
67. Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, et al. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. Genomics, 2000;65:146-56.
68. Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 1999;98:13-23.
69. Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genet, 1997;17:15-6.
70. Kajiwara K, Sandberg MA, Berson EL, Dryja TP. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet 1993;3:208-12.
71. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. 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;111:1531-42.
72. Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet, 1993;3:213-18.
73. Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. Hum Mol Genet, 1994;3:367-8.
74. Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. Arch Ophthalmol, 1996;114:72-8.
75. Wada Y, Abe T, Takeshita T, Sato H, Yanashima K, Tamai M. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2001;42:2395-400.
76. Hawkins RK, Jansen HG, Sanyal S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in heterozygotes. Exp Eye Res, 1985;41:701-720.
77. McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, et al. Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. Hum Mol Genet, 2002;11:1005-16.
78. Clarke G, Goldberg AF, Vidgen D, Collins L, Ploder L, Schwarz L, et al. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nature Genet, 2000;25:67-73.
79. Goldberg AF, Molday RS. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc Natl Acad Sci USA, 1996;93:13726-30.
80. McKie AB, McHale JC, Keen J, Tarttelin EE, Goliath R, van Lith-Verhoeven JJC, et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet, 2001;10:1555-62.
81. Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet, 2002;11:87-92.
82. Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell, 2001;8:375-81.
83. Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, et al. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychological and molecular genetic study. Br J Ophthalmol, 1993;77:473-9.
84. Evans K, Al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, et al. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol, 1995; 79:841-6.
85. Deery EC, Vithana EN, Newbold RJ, Gallon VA, Bhattacharya SS, Warren MJ, et al. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum Mol Genet, 2002;11:3209-19.
86. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature, 1989;338:70-3.
87. Williams DS. Transport to the photoreceptor outer segment by myosin VIIa and kinesin II. Vision Res, 2002;42:455-62.
88. Sung CH, Tai AW. Rhodopsin trafficking and its role in retinal dystrophies. Int Rev Cytol, 2000;195:215-67.
89. Deretic D, Papermaster DS. Rab6 is associated with a compartment that transports rhodopsin from the trans-Golgi to the site of rod outer segment disk formation in frog retinal photoreceptors. J Cell Sci, 1993;106:803-13.
90. Deretic D, Huber LA, Ransom N, Mancini M, Simons K, Papermaster DS. rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis. J Cell Sci, 1995;108:215-24.
91. Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, et al. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet, 2000;9: 27-34.
92. Zhao Y, Hong DH, Pawlyk B, Yue G, Adamian M, Grynberg M, et al. The retinitis pigmentosa GTPase regulator (RPGR)-interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci USA, 2003;100:3965-70.
93. Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, et al. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci USA, 2002;99:5698-703.
94. Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA, 2000;97:3649-54.
95. Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet, 2001;9:561-71.
96. Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Aleman TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci, 1999;40:2106-14.
97. Hagstrom SA, North MA, Nishina PM, Berson EL, Dryja TP. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nature Genet, 1998;18:174-6.
98. Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nature Genet, 2000;25:462-6.
99. Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics, 2002;80:166-71.
100. Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet, 2002;70:1049-53.
101. Yang Z, Peachey NS, Moshfeghi DM, Thirumalaichary S, Chorich L, Shugart YY, Fan K, Zhang K. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet, 2002;11:605-11.
102. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature, 1995;374:60-1.
103. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nature Genet, 1999;22:248-54.
104. Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nature Genet, 1999;22:255-9.
105. Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2000;41:1898-908.
106. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science, 1998;280:1753-7.
107. Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet, 2000;66:1199-210.
108. Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res, 2002;163:1-11.
109. den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nature Genet, 1999;23:217-21.
110. Izaddoost S, Nam SC, Bhat MA, Bellen HJ, Choi KW. Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres. Nature, 2002;416:178-83.
111. Rich KA, Figueroa SL, Zhan Y, Blanks JC. Effects of Muller cell disruption on mouse photoreceptor cell development. Exp Eye Res, 1995;61:235-48.
112. Rich KA, Zhan Y, Blanks JC. Migration and synaptogenesis of cone photoreceptors in the developing mouse retina. J Comp Neurol, 1997;388:47-63.
113. Mehalow AK, Kameya S, Smith RS, Hawes NL, Denegre JM, Young JA, et al. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet, 2003;12:2179-89.
114. Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan JM, et al. Mutations in myosin VIIA (MY07A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat, 2002;20:76-7.
115. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet, 2000;66:1975-8.
116. Bernal S, Ayuso C, Antinolo G, Gimenez A, Borrego S, Trujillo MJ, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet, 2003;40 e8.
117. th Annual Meeting of the Association for Research in Vision and Ophtalmology (ARVO); 2003; Fort Lauderdale, FL, USA. abstract 2315.
118. den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, et al. 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.
119. Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet, 2003;12:1073-8.
120. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet, 2002;11:559-68.
121. Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, et al. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice. Hum Mol Genet, 2002;11:547-58.
122. Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, et al. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet, 2002;10:245-9.
123. Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci, 2001;42:2217-24.
124. Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, et al. RP1 protein truncating mutations predominate at the RP1 adRP locus. Invest Ophthalmol Vis Sci, 2000;41:4069-73.
125. Milla E, Maseras M, Martinez-Gimeno M, Gamundi MJ, Assaf H, Esmerado C, et al. Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP). Arch Soc Esp Oftalmol, 2002;77:481-4.
126. Bunge S, Wedemann H, David D, Terwilliger DJ, van den Born LI, Aulehla-Scholz C, et al. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics, 1993;17:230-3.
127. Dryja TP, McEvoy JA, McGee TL, Berson EL. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2000;41:3124-7.
128. Dryja TP, Hahn LB, Kajiwara K, Berson EL. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci, 1997;38:1972-82.
129. Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antinolo G, Ayuso C, et al. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat, 2001;17:520.
130. Paloma E, Martinez-Mir A, Garcia-Sandoval B, Ayuso C, Vilageliu L, Gonzalèz-Duarte R, et al. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet, 2002;39:1-4.
131. Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet, 1995;11:468-71.
132. Dryja TP, Rucinski DE, Chen SH, Berson EL. Frequency of mutations in the gene encoding the a subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci, 1999;40:1859-65.
133. McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP. Mutation spectrum of the gene encoding the β-subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA, 1995;92:3249-53.
134. Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci, 1999;40:1000-4.
135. Morimura H, Fishman GA, Graver SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci USA, 1998;95:3088-93.
136. Thompson DA, Gyurus P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci, 2000;41:4293-9.
137. Paloma E, Hjelmqvist L, Bayes M, Garcia-Sandoval B, Ayuso C, Balcells S, et al. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2000;4:656-9.
138. Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, et al. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci, 2002;43:2819-24.
139. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, von Duijnhoven G, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genet, 1998;19:327-32.
140. Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, et al. 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;64:1210-5.
141. Sharon D, Bruns GAP, McGee TL, Sandberg MA, Berson EL, Dryja TP. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci, 2000;41:2712-21.
142. Breuer DK, Yashar BM, Flippova E, Hiriyanna S, Lyons RH, Mears AJ, et al. A comprehensive mutation analysis of RP2 and RPGR in a north American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet, 2002;70:1545-54.
143. Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, et al. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci, 2000;41:2080-6.
144. Gieser L, Fujita R, Goring HH, Ott J, Hoffman DR, Cideciyan AV, et al. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet, 1998;63:1439-47.
145. Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol, 1995;79:28-34.
146. Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet, 2001;108:328-34.
147. Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, Stone EM, et al. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA, 1998;95:7103-8.
148. Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, et al. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. Br J Ophthalmol, 1995;79:23-7.
149. Tarttelin EE, Plant C, Weissenbach J, Bird AC, Bhattacharya SS, Inglehearn CF. A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. J Med Genet, 1996;33:518-20.
150. Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet, 1999;64:1225-8.
151. van den Born LI, van Soest S, van Schooneveld MJ, Riemslag FC, de Jong PT, Bleeker-Wagemakers EM. Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium. Am J Ophthalmol, 1994;118:430-9.
152. Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet, 2002;70:224-9.
153. McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet, 1993;4:130-4.
154. Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci, 1999;40:995-1000.
155. Klevering BJ, van Driel M, van de Pol DJ, Pinckers AJ, Cremers FP, Hoyng CB. Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. Br J Ophthalmol, 1999;83:914-8.
156. Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, 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;36:447-51.
157. Ricci A, Ammann F, Franceschetti A. Reflet tapétoïde reversible (phénomène de Mizuo inverse) chez des conductrices de rétinopathie pigmentaire récessive liée au sexe. Bull Mem Soc Ophtalmol Fr, 1963;76:31-5.
158. Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, et al. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br J Ophthalmol, 1999;83:1144-8.
159. Demirci FYK, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, et al. X-linked cone-rod dystrophy (locus COD1): identification of mutations in the RPGR exon ORF15. Am J Hum Genet, 2002;70:1049-53.
160. McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. Am J Hum Genet, 1995;57:87-94.
161. Rozet J-M, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S, et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet, 2002;39:284-5.