Have questions? Visit https://www.reddit.com/r/SNPedia

Retinal dystrophy

From SNPedia

Retinal dystrophies are a broad group of of degenerative diseases of the retina with wie clinical and genetic variability. Commonalities among these disorders include night or color blindness, tunnel vision and eventual progression to complete blindness.[PMID 26835369OA-icon.png]

Mutations in over 250 genes can lead to retinal dystrophy, and all Mendelian inheritance patterns, including autosomal dominant, autosomal recessive and X-linked, have been observed. Mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting even further levels of complexity.

Retinal dystrophy can be nonsyndromic or can be part of a syndrome in which clinical consequences go affected retinas. The most common nonsyndromic retinal dystrophy is retinitis pigmentosa, associated with over 60 different genes, of which mutations in the RHO gene are among the most frequent. Other nonsyndromic RDs include Leber congenital amaurosis, congenital stationary night blindness, Stargardt's disease and achromatopsia.

Examples of syndromic retinal dystrophies include Usher syndrome, Bardet-Biedl syndrome, Joubert syndrome, Senior-Loken syndrome, Cohen Syndrome and Alstrom syndrome.