Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

Leber congenital amaurosis is a congenital retinal dystrophy described almost 150 years
ago. Today, Leber congenital amaurosis is proving instrumental in our understanding of the …

Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a
variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with …

Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To
date, mutations in eight genes have been described, which together account for∼ 45% of …

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Despite rapid advances in the identification of genes involved in disease, the predictive
power of the genotype remains limited, in part owing to poorly understood effects of second …

Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing
loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial …

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive
cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying …