I. Adzhubei, S. Schmidt, L. Peshkin, V. Ramensky, A. Gerasimova et al., A method and server for predicting damaging missense mutations, Nature Methods, vol.7, issue.4, pp.248-257, 2010.
DOI : 10.1038/nmeth0410-248

I. Audo, J. Sahel, S. Mohand-said, M. Lancelot, A. Antonio et al., EYS is a major gene for rod-cone dystrophies in France, Human Mutation, vol.31, issue.5, pp.1406-1441, 2010.
DOI : 10.1002/humu.21249

URL : https://hal.archives-ouvertes.fr/hal-00552377

L. Benayoun, R. Spiegel, N. Auslender, A. Abbasi, L. Rizel et al., Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping, American Journal of Medical Genetics Part A, vol.15, issue.4, pp.650-656, 2009.
DOI : 10.1002/ajmg.a.32634

S. Bernal, M. Calaf, M. Garcia-hoyos, B. Garcia-sandoval, J. Rosell et al., Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa, Journal of Medical Genetics, vol.40, issue.7, p.89, 2003.
DOI : 10.1136/jmg.40.7.e89

J. Booij, R. Florijn, J. Brink, W. Loves, F. Meire et al., Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa, Journal of Medical Genetics, vol.42, issue.11, p.67, 2005.
DOI : 10.1136/jmg.2005.035121

M. Cahill, O. Keefe, M. Acheson, R. Mulvihill, A. Wallace et al., Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation, Acta Ophthalmologica Scandinavica, vol.47, issue.6, pp.596-602, 2001.
DOI : 10.1097/00005792-199711000-00001

Y. Chang, J. Imam, and M. Wilkinson, The Nonsense-Mediated Decay RNA Surveillance Pathway, Annual Review of Biochemistry, vol.76, issue.1, pp.51-74, 2007.
DOI : 10.1146/annurev.biochem.76.050106.093909

G. Clark, P. Crowe, D. Muszynska, D. O-'prey, O. Neill et al., Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa, Ophthalmology, vol.117, issue.11, pp.2169-77, 2010.
DOI : 10.1016/j.ophtha.2010.02.029

F. Coppieters, I. Casteels, F. Meire, D. Jaegere, S. Hooghe et al., Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes, Human Mutation, vol.31, issue.10, pp.1709-66, 2010.
DOI : 10.1002/humu.21336

URL : https://hal.archives-ouvertes.fr/hal-00613751

A. Hollander, J. Davis, S. Van-der-velde-visser, M. Zonneveld, C. Pierrottet et al., CRB1 mutation spectrum in inherited retinal dystrophies, Human Mutation, vol.276, issue.5, pp.355-69, 2004.
DOI : 10.1002/humu.20093

A. Hollander, M. Ghiani, Y. De-kok, J. Wijnholds, A. Ballabio et al., Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain, Mechanisms of Development, vol.110, issue.1-2, pp.203-210, 2002.
DOI : 10.1016/S0925-4773(01)00568-8

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

A. Hollander, K. Johnson, Y. De-kok, A. Klebes, H. Brunner et al., CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila, Human Molecular Genetics, vol.10, issue.24, pp.2767-73, 2001.
DOI : 10.1093/hmg/10.24.2767

A. Hollander, I. Lopez, S. Yzer, M. Zonneveld, I. Janssen et al., Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays, Investigative Opthalmology & Visual Science, vol.48, issue.12, pp.5690-5698, 2007.
DOI : 10.1167/iovs.07-0610

A. Hollander, R. Roepman, R. Koenekoop, and F. Cremers, Leber congenital amaurosis: Genes, proteins and disease mechanisms, Progress in Retinal and Eye Research, vol.27, issue.4, pp.391-419, 2008.
DOI : 10.1016/j.preteyeres.2008.05.003

A. Hollander, J. Brink, Y. De-kok, S. Van-soest, L. Van-den-born et al., Kellner U and others. 1999. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12), Nat Genet, vol.23, pp.217-238

A. Franceschetti and P. Dieterle, Importance diagnostique et pronostique de l'??lectror??tinogramme (ERG) dans les d??g??n??rescences tap??to-r??tiniennes avec r??tr??cissement du champ visuel et h??m??ralopie, Stereotactic and Functional Neurosurgery, vol.14, issue.2-3, pp.184-190, 1954.
DOI : 10.1159/000105710

J. Galvin, G. Fishman, E. Stone, and R. Koenekoop, EVALUATION OF GENOTYPE???PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS, Retina, vol.25, issue.7, pp.919-948, 2005.
DOI : 10.1097/00006982-200510000-00016

S. Gerber, I. Perrault, S. Hanein, S. Shalev, J. Zlotogora et al., A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis, Ophthalmic Genetics, vol.22, issue.4, pp.225-260, 2002.
DOI : 10.1007/s004390050825

I. Gosens, A. Hollander, F. Cremers, and R. Roepman, Composition and function of the Crumbs protein complex in the mammalian retina, Experimental Eye Research, vol.86, issue.5, pp.713-739, 2008.
DOI : 10.1016/j.exer.2008.02.005

M. Hajali, G. Fishman, and R. Anderson, The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography, British Journal of Ophthalmology, vol.92, issue.8, pp.1065-1073, 2008.
DOI : 10.1136/bjo.2008.138560

S. Hanein, I. Perrault, S. Gerber, G. Tanguy, F. Barbet et al., Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis, Human Mutation, vol.29, issue.4, pp.306-323, 2004.
DOI : 10.1002/humu.20010

J. Heckenlively, Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa., British Journal of Ophthalmology, vol.66, issue.1, pp.26-30, 1982.
DOI : 10.1136/bjo.66.1.26

R. Henderson, D. Mackay, Z. Li, P. Moradi, P. Sergouniotis et al., Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1, British Journal of Ophthalmology, vol.95, issue.6, 2010.
DOI : 10.1136/bjo.2010.186882

URL : https://hal.archives-ouvertes.fr/hal-00595938

R. Henderson, N. Waseem, R. Searle, J. Van-der-spuy, I. Russell-eggitt et al., An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy, Investigative Opthalmology & Visual Science, vol.48, issue.12, pp.5684-5693, 2007.
DOI : 10.1167/iovs.07-0207

S. Jacobson, A. Cideciyan, T. Aleman, M. Pianta, A. Sumaroka et al., Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination, Human Molecular Genetics, vol.12, issue.9, pp.1073-1081, 2003.
DOI : 10.1093/hmg/ddg117

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.2256-2265, 2001.
DOI : 10.1126/science.1063525

S. Khaliq, A. Abid, A. Hameed, K. Anwar, A. Mohyuddin et al., Mutation screening of Pakistani families with congenital eye disorders, Experimental Eye Research, vol.76, issue.3, pp.343-351, 2003.
DOI : 10.1016/S0014-4835(02)00304-4

T. Leber, Ueber Retinitis pigmentosa und angeborene Amaurose. Graefe's Archive For, Clinical And Experimental Ophthalmology, vol.15, pp.1-25
DOI : 10.1007/bf02721213

L. Li, X. Xiao, S. Li, X. Jia, P. Wang et al., Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis, PLoS ONE, vol.12, issue.5, p.19458, 2011.
DOI : 10.1371/journal.pone.0019458.s006

A. Lotery, S. Jacobson, G. Fishman, R. Weleber, A. Fulton et al., Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis, Archives of Ophthalmology, vol.119, issue.3, pp.415-435, 2001.
DOI : 10.1001/archopht.119.3.415

A. Lotery, A. Malik, S. Shami, M. Sindhi, B. Chohan et al., CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation, Ophthalmic Genetics, vol.6, issue.3, pp.163-172, 2001.
DOI : 10.1076/opge.22.3.163.2222

A. Mataftsi, D. Schorderet, L. Chachoua, M. Boussalah, M. Nouri et al., Mutation Causing Leber Congenital Amaurosis or Early Onset Retinal Degeneration, Investigative Opthalmology & Visual Science, vol.48, issue.11, pp.5160-5167, 2007.
DOI : 10.1167/iovs.06-1013

G. Mckay, S. Clarke, J. Davis, D. Simpson, and G. Silvestri, ) Gene, Investigative Opthalmology & Visual Science, vol.46, issue.1, pp.322-330, 2005.
DOI : 10.1167/iovs.04-0734

M. Mckibbin, M. Ali, M. Mohamed, A. Booth, F. Bishop et al., Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan, Archives of Ophthalmology, vol.128, issue.1, pp.107-120, 2010.
DOI : 10.1001/archophthalmol.2010.309

T. Mcmahon, L. Kim, G. Fishman, E. Stone, X. Zhao et al., Gene Mutations Are Associated with Keratoconus in Patients with Leber Congenital Amaurosis, Investigative Opthalmology & Visual Science, vol.50, issue.7, pp.3185-3192, 2009.
DOI : 10.1167/iovs.08-2886

A. Mehalow, S. Kameya, R. Smith, N. Hawes, J. Denegre et al., CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina, Human Molecular Genetics, vol.12, issue.17, pp.2179-89, 2003.
DOI : 10.1093/hmg/ddg232

P. Ng and S. Henikoff, SIFT: predicting amino acid changes that affect protein function, Nucleic Acids Research, vol.31, issue.13, pp.3812-3816, 2003.
DOI : 10.1093/nar/gkg509

URL : http://doi.org/10.1093/nar/gkg509

K. Nishiguchi, J. Friedman, M. Sandberg, A. Swaroop, E. Berson et al., Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function, Proceedings of the National Academy of Sciences, vol.101, issue.51, pp.17819-17843, 2004.
DOI : 10.1073/pnas.0408183101

M. Pellikka, G. Tanentzapf, M. Pinto, C. Smith, C. Mcglade et al., Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis, Nature, vol.120, issue.6877, pp.143-152, 2002.
DOI : 10.1038/nature721

C. Poloschek, M. Bach, W. Lagreze, E. Glaus, J. Lemke et al., -Associated Macular Dystrophy Phenotype, Investigative Opthalmology & Visual Science, vol.51, issue.8, pp.4253-65, 2010.
DOI : 10.1167/iovs.09-4655

URL : http://www.zora.uzh.ch/35612/2/ABCA4_and_ROM1.pdf

R. Riveiro-alvarez, E. Vallespin, R. Wilke, B. Garcia-sandoval, D. Cantalapiedra et al., Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa, Mol Vis, vol.14, pp.262-269, 2008.

D. Schorderet and P. Escher, mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP), Human Mutation, vol.43, issue.11, pp.1475-85, 2009.
DOI : 10.1002/humu.21096

D. Seelow, M. Schuelke, F. Hildebrandt, and P. Nurnberg, HomozygosityMapper--an interactive approach to homozygosity mapping, Nucleic Acids Research, vol.37, issue.Web Server, pp.593-602, 2009.
DOI : 10.1093/nar/gkp369

M. Seong, S. Kim, Y. Yu, J. Hwang, J. Kim et al., Molecular characterization of Leber congenital amaurosis in Koreans, Mol Vis, vol.14, pp.1429-1465, 2008.

D. Sharon, M. Sandberg, R. Caruso, E. Berson, and T. Dryja, Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal Degeneration, Archives of Ophthalmology, vol.121, issue.9, pp.1316-1339, 2003.
DOI : 10.1001/archopht.121.9.1316

F. Simonelli, C. Ziviello, F. Testa, S. Rossi, E. Fazzi et al., Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients, Investigative Opthalmology & Visual Science, vol.48, issue.9, pp.4284-90, 2007.
DOI : 10.1167/iovs.07-0068

U. Tepass, C. Theres, and E. Knust, crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia, Cell, vol.61, issue.5, pp.787-99, 1990.
DOI : 10.1016/0092-8674(90)90189-L

J. Tosi, I. Tsui, L. Lima, N. Wang, and S. Tsang, Case Report: Autofluorescence Imaging and Phenotypic Variance in a Sibling Pair with Early-Onset Retinal Dystrophy Due to Defective CRB1 Function, Current Eye Research, vol.358, issue.2, pp.395-400, 2009.
DOI : 10.1016/j.ymthe.2006.03.005

E. Vallespin, D. Cantalapiedra, R. Riveiro-alvarez, R. Wilke, J. Aguirre-lamban et al., Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray, Investigative Opthalmology & Visual Science, vol.48, issue.12, pp.5653-61, 2007.
DOI : 10.1167/iovs.07-0007

S. Van-de-pavert, A. Kantardzhieva, A. Malysheva, J. Meuleman, I. Versteeg et al., Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure, Journal of Cell Science, vol.117, issue.18, pp.4169-77, 2004.
DOI : 10.1242/jcs.01301

URL : https://hal.archives-ouvertes.fr/hal-00306507

S. Van-de-pavert, J. Meuleman, A. Malysheva, W. Aartsen, I. Versteeg et al., A Single Amino Acid Substitution (Cys249Trp) in Crb1 Causes Retinal Degeneration and Deregulates Expression of Pituitary Tumor Transforming Gene Pttg1, Journal of Neuroscience, vol.27, issue.3, pp.564-73, 2007.
DOI : 10.1523/JNEUROSCI.3496-06.2007

S. Walia, G. Fishman, S. Jacobson, T. Aleman, R. Koenekoop et al., Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa, Ophthalmology, vol.117, issue.6, pp.1190-1198, 2010.
DOI : 10.1016/j.ophtha.2009.09.056

S. Yzer, G. Fishman, J. Racine, S. Al-zuhaibi, H. Chakor et al., Heterozygotes with Regional Retinal Dysfunction: Implications for Genetic Testing of Leber Congenital Amaurosis, Investigative Opthalmology & Visual Science, vol.47, issue.9, pp.3736-3780, 2006.
DOI : 10.1167/iovs.05-1637

S. Yzer, B. Leroy, D. Baere, E. De-ravel, T. Zonneveld et al., Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis, Investigative Opthalmology & Visual Science, vol.47, issue.3, pp.1167-76, 2006.
DOI : 10.1167/iovs.05-0848

J. Zenteno, B. Buentello-volante, R. Ayala-ramirez, and C. Villanueva-mendoza, Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos, American Journal of Medical Genetics Part A, vol.25, issue.5, pp.1001-1007, 2011.
DOI : 10.1002/ajmg.a.33862