F. Ammann, D. Klein, and A. Franceschetti, 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

J. Boughman, P. Conneally, and W. Nance, Population genetic studies of retinitis pigmentosa, Am J Hum Genet, vol.32, pp.223-235, 1980.

M. Jay, 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

B. Puech, B. Kostrubiec, J. Hache, and P. Francois, Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France, J Fr Ophtalmol, vol.14, pp.153-164, 1991.

E. Berson, B. Rosner, M. Sandberg, K. Hayes, B. Nicholson et al., 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

S. Hanein, I. Perrault, S. Gerber, G. Tanguy, C. Hamel et al., 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

J. Boughman, M. Vernon, and K. Shaver, 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

A. Roux, 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

P. Beales, N. Elcioglu, A. Woolf, D. Parker, and F. Flinter, New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey, J Med Genet, vol.36, pp.437-446, 1999.

H. Dollfus, A. Verloes, D. Bonneau, M. Cossée, F. Perrin-schmitt et al., 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

H. Hichri, C. Stoetzel, V. Laurier, S. Caron, S. Sigaudy et al., 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

N. Katsanis, S. Ansley, J. Badano, E. Eichers, R. Lewis et al., Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder, Science, vol.293, issue.5538, pp.2256-2259, 2001.
DOI : 10.1126/science.1063525

S. Saunier, R. Salomon, and C. Antignac, 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

J. Kolehmainen, G. Black, A. Saarinen, K. Chandler, J. Clayton-smith et al., 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

A. Li, X. Jiao, F. Munier, D. Schorderet, W. Yao et al., 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

M. Town, G. Jean, S. Cherqui, M. Attard, L. Forestier et al., 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

K. Luiro, O. Kopra, M. Lehtovirta, and A. Jalanko, 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

T. Dixon-salazar, J. Silhavy, S. Marsh, C. Louie, L. Scott et al., 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

Y. Trottier, Y. Lutz, G. Stevanin, G. Imbert, D. Devys et al., 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

F. Mansergh, S. Millington-ward, A. Kennan, A. Kiang, M. Humphries et al., 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

K. Kajiwara, E. Berson, and T. Dryja, 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

C. Rivolta, D. Sharon, M. Deangelis, and T. Dryja, 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

T. Dryja, T. Mcgee, E. Reichel, L. Hahn, G. Cowley et al., 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

C. Maubaret and C. Hamel, 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

G. Fain, Why photoreceptors die (and why they don't), BioEssays, vol.12, issue.4, pp.344-354, 2006.
DOI : 10.1002/bies.20382

B. Seyedahmadi, E. Berson, and T. Dryj, Screening of 51 Newly Identified USH2A Exons Among Patients With Usher Syndrome Type II and Non-Syndromic Recessive Retinitis Pigmentosa, p.570, 1801.

B. Klevering, S. Yzer, K. Rohrschneider, M. Zonneveld, R. Allikmets et al., 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

J. Zernant, M. Kulm, S. Dharmaraj, A. Hollander, I. Perrault et al., 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

Y. Miyake, N. Shiroyama, S. Sugita, M. Horiguchi, and K. Yagasaki, 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

M. Wang, T. Lam, M. Tso, and M. Naash, 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

E. Berson, B. Rosner, M. Sandberg, K. Hayes, B. Nicholson et al., Vitamin A Supplementation for Retinitis Pigmentosa, Archives of Ophthalmology, vol.111, issue.11, pp.1456-1466, 1993.
DOI : 10.1001/archopht.1993.01090110014001

E. Berson, B. Rosner, M. Sandberg, C. Weigel-difranco, A. Moser et al., 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

S. Cox, E. Hay, and A. Bird, Treatment of Chronic Macular Edema With Acetazolamide, Archives of Ophthalmology, vol.106, issue.9, pp.1190-1195, 1988.
DOI : 10.1001/archopht.1988.01060140350030

DOI : 10.1097/00006982-199705000-00009

A. Hollander, J. Heckenlively, L. Van-den-born, Y. De-kok, S. Van-der-velde-visser et al., 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

G. Acland, G. Aguirre, J. Ray, Q. Zhang, T. Aleman et al., 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

G. Acland, G. Aguirre, J. Bennett, T. Aleman, A. Cideciyan et al., 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

M. Weber, J. Rabinowitz, N. Provost, H. Conrath, S. Folliot et al., 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

S. Min, L. Molday, M. Seeliger, A. Dinculescu, A. Timmers et al., 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

M. Frasson, J. Sahel, M. Fabre, M. Simonutti, H. Dreyfus et al., Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse, Nat Med, vol.5, pp.1183-1187, 1999.

B. Pawlyk, T. Li, M. Scimeca, M. Sandberg, and E. Berson, Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse, Invest Ophthalmol Vis Sci, vol.43, pp.1912-1915, 2000.

R. Radu, N. Mata, A. Bagla, and G. Travis, 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

R. Radu, Y. Han, T. Bui, S. Nusinowitz, D. Bok et al., 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

J. Van-hooser, T. Aleman, Y. He, A. Cideciyan, V. Kuksa et al., 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

S. Bowne, L. Sullivan, S. Blanton, C. Cepko, S. Blackshaw et al., 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

S. Mohand-said, A. Deudon-combe, D. Hicks, M. Simonutti, V. Forster et al., 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

Y. Uteza, J. Rouillot, A. Kobetz, D. Marchant, S. Pecqueur et al., 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

M. Sanftner, L. Abel, H. Hauswirth, W. Flannery, and J. , 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

F. Liang, T. Aleman, N. Dejneka, L. Dudus, K. Fisher et al., 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

. Clinicaltrials, gov: Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye

J. Bennett, Y. Zeng, R. Bajwa, L. Klatt, Y. Li et al., 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

C. Liu, Y. Li, M. Peng, A. Laties, and R. Wen, 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.

T. Leveillard, S. Mohand-said, O. Lorentz, D. Hicks, A. Fintz et al., 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

L. Li and J. Turner, 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

A. Gal, Y. Li, D. Thompson, J. Weir, U. Orth et al., Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa, Nat Genet, vol.26, pp.270-271, 2000.

M. Sandberg, R. Brockhurst, A. Gaudio, and E. Berson, 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

M. Sandberg, A. Gaudio, and E. Berson, 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

G. Clarke, R. Collins, B. Leavitt, D. Andrews, M. Hayden et al., A one-hit model of cell death in inherited neuronal degenerations, Nature, vol.406, issue.6792, pp.195-199, 2000.
DOI : 10.1038/35018098

G. Sarra, C. Stephens, M. De-alwis, J. Bainbridge, A. Smith et al., 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