Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland, Journal of the Neurological Sciences, vol.2, issue.2, pp.183-196, 1965. ,
DOI : 10.1016/0022-510X(65)90079-1
Population genetic studies of retinitis pigmentosa, Am J Hum Genet, vol.32, pp.223-235, 1980. ,
On the heredity of retinitis pigmentosa., British Journal of Ophthalmology, vol.66, issue.7, pp.405-416, 1982. ,
DOI : 10.1136/bjo.66.7.405
Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France, J Fr Ophtalmol, vol.14, pp.153-164, 1991. ,
A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa, Archives of Ophthalmology, vol.111, issue.6, pp.761-772, 1993. ,
DOI : 10.1001/archopht.1993.01090060049022
Amaurose cong??nitale de Leber : le point sur l???h??t??rog??n??it?? g??n??tique, actualisation de la d??finition clinique, Journal Fran??ais d'Ophtalmologie, vol.28, issue.1, pp.98-105, 2005. ,
DOI : 10.1016/S0181-5512(05)81031-9
Usher syndrome: Definition and estimate of prevalence from two high-risk populations, Journal of Chronic Diseases, vol.36, issue.8, pp.595-603, 1983. ,
DOI : 10.1016/0021-9681(83)90147-9
Donn??es mol??culaires du syndrome de Usher, Journal Fran??ais d'Ophtalmologie, vol.28, issue.1, pp.93-97, 2005. ,
DOI : 10.1016/S0181-5512(05)81030-7
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey, J Med Genet, vol.36, pp.437-446, 1999. ,
Le point sur le syndrome de Bardet-Biedl, Journal Fran??ais d'Ophtalmologie, vol.28, issue.1, pp.106-112, 2005. ,
DOI : 10.1016/S0181-5512(05)81032-0
Testing for triallelism: analysis of six BBS genes in a Bardet???Biedl syndrome family cohort, European Journal of Human Genetics, vol.36, issue.5, pp.607-616, 2005. ,
DOI : 10.1038/sj.ejhg.5201372
URL : https://hal.archives-ouvertes.fr/hal-00187554
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder, Science, vol.293, issue.5538, pp.2256-2259, 2001. ,
DOI : 10.1126/science.1063525
Nephronophthisis, Current Opinion in Genetics & Development, vol.15, issue.3, pp.324-331, 2005. ,
DOI : 10.1016/j.gde.2005.04.012
URL : https://hal.archives-ouvertes.fr/inserm-00752970
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport, The American Journal of Human Genetics, vol.72, issue.6, pp.1359-1369, 2003. ,
DOI : 10.1086/375454
Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2, The American Journal of Human Genetics, vol.74, issue.5, pp.817-826, 2004. ,
DOI : 10.1086/383228
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis, Nature Genetics, vol.14, issue.4, pp.319-324, 1998. ,
DOI : 10.1093/HMG/6.13.2317
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease, Human Molecular Genetics, vol.10, issue.19, pp.2123-2131, 2001. ,
DOI : 10.1093/hmg/10.19.2123
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria, The American Journal of Human Genetics, vol.75, issue.6, pp.979-987, 2004. ,
DOI : 10.1086/425985
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias, Nature, vol.378, issue.6555, pp.403-406, 1995. ,
DOI : 10.1038/378403a0
Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene, The American Journal of Human Genetics, vol.64, issue.4, pp.971-985, 1999. ,
DOI : 10.1086/302344
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci, Science, vol.264, issue.5165, pp.1604-1608, 1994. ,
DOI : 10.1126/science.8202715
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns, Human Molecular Genetics, vol.11, issue.10, pp.1219-1227, 2002. ,
DOI : 10.1093/hmg/11.10.1219
URL : http://hmg.oxfordjournals.org/cgi/content/short/12/5/583
A point mutation of the rhodopsin gene in one form of retinitis
pigmentosa, Nature, vol.343, issue.6256, pp.364-366, 1990. ,
DOI : 10.1038/343364a0
G??n??tique des r??tinites pigmentaires : classification m??tabolique et corr??lations ph??notype/g??notype, Journal Fran??ais d'Ophtalmologie, vol.28, issue.1, pp.71-92, 2005. ,
DOI : 10.1016/S0181-5512(05)81029-0
Why photoreceptors die (and why they don't), BioEssays, vol.12, issue.4, pp.344-354, 2006. ,
DOI : 10.1002/bies.20382
Screening of 51 Newly Identified USH2A Exons Among Patients With Usher Syndrome Type II and Non-Syndromic Recessive Retinitis Pigmentosa, p.570, 1801. ,
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone???rod dystrophy and retinitis pigmentosa, European Journal of Human Genetics, vol.12, issue.12, pp.1024-1032, 2004. ,
DOI : 10.1038/sj.ejhg.5201258
Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles, Investigative Opthalmology & Visual Science, vol.46, issue.9, pp.3052-3059, 2005. ,
DOI : 10.1167/iovs.05-0111
Fundus albipunctatus associated with cone dystrophy., British Journal of Ophthalmology, vol.76, issue.6, pp.375-379, 1992. ,
DOI : 10.1136/bjo.76.6.375
Abstract, Visual Neuroscience, vol.93, issue.01, pp.55-62, 1997. ,
DOI : 10.1073/pnas.88.20.9370
URL : https://hal.archives-ouvertes.fr/hal-00953003
Vitamin A Supplementation for Retinitis Pigmentosa, Archives of Ophthalmology, vol.111, issue.11, pp.1456-1466, 1993. ,
DOI : 10.1001/archopht.1993.01090110014001
Further Evaluation of Docosahexaenoic Acid in Patients With RetinitisPigmentosa Receiving Vitamin A Treatment, Archives of Ophthalmology, vol.122, issue.9, pp.1306-1314, 2004. ,
DOI : 10.1001/archopht.122.9.1306
Treatment of Chronic Macular Edema With Acetazolamide, Archives of Ophthalmology, vol.106, issue.9, pp.1190-1195, 1988. ,
DOI : 10.1001/archopht.1988.01060140350030
EFFICACY OF DORZOLAMIDE HYDROCHLORIDE IN THE MANAGEMENT OF CHRONIC CYSTOID MACULAR EDEMA IN PATIENTS WITH RETINITIS PIGMENTOSA, Retina, vol.17, issue.3, pp.222-231, 1997. ,
DOI : 10.1097/00006982-199705000-00009
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene, The American Journal of Human Genetics, vol.69, issue.1, pp.198-203, 2001. ,
DOI : 10.1086/321263
Gene therapy restores vision in a canine model of childhood blindness, Nature Genetics, vol.28, issue.1, pp.92-95, 2001. ,
DOI : 10.1038/ng0501-92
Long-Term Restoration of Rod and Cone Vision by Single Dose rAAV-Mediated Gene Transfer to the Retina in a Canine Model of Childhood Blindness, Molecular Therapy, vol.12, issue.6, pp.1072-1082, 2005. ,
DOI : 10.1016/j.ymthe.2005.08.008
Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery, Molecular Therapy, vol.7, issue.6, pp.774-7781, 2003. ,
DOI : 10.1016/S1525-0016(03)00098-4
Prolonged Recovery of Retinal Structure/Function after Gene Therapy in an Rs1h-Deficient Mouse Model of X-Linked Juvenile Retinoschisis, Molecular Therapy, vol.12, issue.4, pp.644-651, 2005. ,
DOI : 10.1016/j.ymthe.2005.06.002
Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse, Nat Med, vol.5, pp.1183-1187, 1999. ,
Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse, Invest Ophthalmol Vis Sci, vol.43, pp.1912-1915, 2000. ,
Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration, Proceedings of the National Academy of Sciences, vol.1476, issue.1, pp.5928-5933, 2004. ,
DOI : 10.1016/S0167-4838(99)00232-0
Reductions in Serum Vitamin A Arrest Accumulation of Toxic Retinal Fluorophores: A Potential Therapy for Treatment of Lipofuscin-Based Retinal Diseases, Investigative Opthalmology & Visual Science, vol.46, issue.12, pp.4393-4401, 2005. ,
DOI : 10.1167/iovs.05-0820
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness, Proceedings of the National Academy of Sciences, vol.68, issue.2, pp.8623-8628, 2000. ,
DOI : 10.1006/mgme.1999.2906
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa, Human Molecular Genetics, vol.11, issue.5, pp.559-568, 2002. ,
DOI : 10.1093/hmg/11.5.559
Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse, Proceedings of the National Academy of Sciences, vol.64, issue.5, pp.8357-8362, 1998. ,
DOI : 10.1006/exer.1996.0253
Intravitreous transplantation of encapsulated fibroblasts secreting the human fibroblast growth factor 2 delays photoreceptor cell degeneration in Royal College of Surgeons rats, Proceedings of the National Academy of Sciences, vol.39, issue.1, pp.3126-3131, 1999. ,
DOI : 10.1002/jcb.240390103
Glial Cell Line Derived Neurotrophic Factor Delays Photoreceptor Degeneration in a Transgenic Rat Model of Retinitis Pigmentosa, Molecular Therapy, vol.4, issue.6, pp.622-629, 2001. ,
DOI : 10.1006/mthe.2001.0498
Long-Term Protection of Retinal Structure but Not Function Using RAAV.CNTF in Animal Models of Retinitis Pigmentosa, Molecular Therapy, vol.4, issue.5, pp.461-472, 2001. ,
DOI : 10.1006/mthe.2001.0473
gov: Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye ,
Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse, Gene Therapy, vol.5, issue.9, pp.1156-1164, 1998. ,
DOI : 10.1038/sj.gt.3300733
Activation of caspase-3 in the retina of transgenic rats with the rhodopsin mutation s344ter during photoreceptor degeneration, J Neurosci, vol.19, pp.4778-4785, 1999. ,
Identification and characterization of rod-derived cone viability factor, Nature Genetics, vol.124, issue.7, pp.755-759, 2004. ,
DOI : 10.1093/nar/25.17.3389
URL : https://hal.archives-ouvertes.fr/inserm-00312378
Inherited retinal dystrophy in the RCS rat: Prevention of photoreceptor degeneration by pigment epithelial cell transplantation, Experimental Eye Research, vol.47, issue.6, pp.911-917, 1988. ,
DOI : 10.1016/0014-4835(88)90073-5
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa, Nat Genet, vol.26, pp.270-271, 2000. ,
The Association between Visual Acuity and Central Retinal Thickness in Retinitis Pigmentosa, Investigative Opthalmology & Visual Science, vol.46, issue.9, pp.3349-3354, 2005. ,
DOI : 10.1167/iovs.04-1383
Disease Course of Patients With Pericentral Retinitis Pigmentosa, American Journal of Ophthalmology, vol.140, issue.1, pp.100-106, 2005. ,
DOI : 10.1016/j.ajo.2005.02.038
A one-hit model of cell death in inherited neuronal degenerations, Nature, vol.406, issue.6792, pp.195-199, 2000. ,
DOI : 10.1038/35018098
Gene replacement therapy in the retinal degeneration slow (rds)mouse: the effect on retinal degeneration following partial transduction of the retina, Human Molecular Genetics, vol.10, issue.21, pp.2353-2361, 2001. ,
DOI : 10.1093/hmg/10.21.2353