-
Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degener...
-
Article
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity map**, that the LCA5 gene on chromosome 6q14, which encodes the...
-
Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Nicholas Katsanis and colleagues report that a common allele of RPGRIP1L is associated with photoreceptor loss in ciliopathies. An A229T variant in RPGRIP1L compromises binding to RPGR and modifies the retinal de...
-
Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AH...
-
Article
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
Johannes van de Ven and colleagues report a rare missense mutation in CFI encoding a p.Gly119Arg substitution that confers a high risk of AMD. Sera from AMD cases carrying the p.Gly119Arg variant mediate the degr...
-
Article
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
Patrick Sulem, Kari Stefansson and colleagues report the identification of a rare nonsynonymous variant in the C3 gene, encoding complement factor 3, that is associated with age-related macular degeneration.
-
Article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Susanne Kohl and colleagues report mutations in ATF6, a regulator of the unfolded protein response pathway, that cause a familial form of achromatopsia. Their results indicate a role for ATF6 in foveal developmen...
-
Article
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Iris Heid, Gonçalo Abecasis, Sudha Iyengar and colleagues report the results of a large genome-wide association meta-analysis of macular degeneration based on over 43,000 subjects. They identify 16 new risk lo...
-
Article
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
Anneke den Hollander, Patsy Nishina and colleagues report heterozygous missense mutations in CTNNA1 in three families with butterfly-shaped pigment dystrophy. Ctnna1-mutant mice display a similar phenotype and sh...
-
Article
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Chiea Chuen Khor, Tin Aung and colleagues report the results of a large genome-wide association study of primary angle closure glaucoma. They identify five new susceptibility loci and provide insights into dis...
-
Article
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-map** analysis of a previously identified disease-as...