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Article
Open AccessWhole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes
Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The ...
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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...
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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...
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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...
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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...
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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...
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Article
Open AccessCYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia
CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia.
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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.
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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...
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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...
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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...
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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...
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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...