Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding
condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been …

Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by
progressive degeneration of retinal photoreceptors leading to progressive visual decline. It …

Genome-wide patterns of homozygosity runs and their variation across individuals provide a
valuable and often untapped resource for studying human genetic diversity and evolutionary …

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …

Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by
extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here …

Intellectual disability (ID) is a neurodevelopmental condition affecting 1–3% of the world's
population. Genetic factors play a key role causing the congenital limitations in intellectual …

Although autism has a clear genetic component, the high genetic heterogeneity of the
disorder has been a challenge for the identification of causative genes. We used …

Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are
inherited retinal diseases that cause early onset severe visual impairment. An accurate …

Inherited retinal diseases (IRDs) are genetically and clinically heterogeneous disorders.
Together, they have an estimated incidence of 1: 2000 and thereby are the leading cause of …

Objective To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.
M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). Methods …