Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

[1] Kumaran N(2017)Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions Br J Ophthalmol 101 1147-1154

[2] Moore AT(2018)Leber congenital Amaurosis Associated with Mutations in CEP290, clinical phenotype, and natural history in preparation for trials of novel therapies Ophthalmology 125 894-903

[3] Weleber RG(2020)GUCY2D-associated leber congenital amaurosis: a retrospective natural history study in preparation for trials of novel therapies Am J Ophthalmol 210 59-70

[4] Michaelides M(2005)Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis Mol Vis 11 263-273

[5] Sheck L(1997)Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy Nat Genet 17 194-197

[6] Davies WIL(2008)Leber congenital amaurosis: genes, proteins and disease mechanisms Prog Retin Eye Res 27 391-419

[7] Moradi P(2020)Retinal structure in RPE65-associated retinal dystrophy Invest Ophthalmol Vis Sci 61 47-24

[8] Bouzia Z(2012)Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years Arch Ophthalmol 130 9-1897

[9] Georgiou M(2015)Long-term effect of gene therapy on Leber's congenital amaurosis N Engl J Med 372 1887-12

[10] Hull S(2015)ISCEV Standard for full-field clinical electroretinography (2015 update) Doc Ophthalmol 130 1-7

[1] Kumaran N(2017)Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions Br J Ophthalmol 101 1147-1154

[2] Moore AT(2018)Leber congenital Amaurosis Associated with Mutations in CEP290, clinical phenotype, and natural history in preparation for trials of novel therapies Ophthalmology 125 894-903

[3] Weleber RG(2020)GUCY2D-associated leber congenital amaurosis: a retrospective natural history study in preparation for trials of novel therapies Am J Ophthalmol 210 59-70

[4] Michaelides M(2005)Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis Mol Vis 11 263-273

[5] Sheck L(1997)Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy Nat Genet 17 194-197

[6] Davies WIL(2008)Leber congenital amaurosis: genes, proteins and disease mechanisms Prog Retin Eye Res 27 391-419

[7] Moradi P(2020)Retinal structure in RPE65-associated retinal dystrophy Invest Ophthalmol Vis Sci 61 47-24

[8] Bouzia Z(2012)Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years Arch Ophthalmol 130 9-1897

[9] Georgiou M(2015)Long-term effect of gene therapy on Leber's congenital amaurosis N Engl J Med 372 1887-12

[10] Hull S(2015)ISCEV Standard for full-field clinical electroretinography (2015 update) Doc Ophthalmol 130 1-7