Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy

Retinitis pigmentosa (RP) (OMIM #268000) is the most common hereditary retinal disease. It is characterized by progressive retinal degeneration that causes symptoms of early nyctalopia and peripheral field constriction, eventually affecting the central vision and leading to legal blindness.1 One in 3-4000 in the population has RP, and it can be inherited as autosomal recessive in 50 –60% of cases, 30–40% as autosomal dominant and the remaining ∼5–15% as X-linked inheritance.2, 3 Non-syndromic RP has been associated with more than 80 genes, more than 35 which have been associated with an autosomal recessive mode of inheritance.

Source: American Journal of Ophthalmology - February 16, 2024 Category: Opthalmology Authors: Shaima Awadh Hashem, Michalis Georgiou, Yu Fujinami-Yokokawa, Yannik Laich, Malena Daich Varela, Thales A.C. de Guimaraes, Naser Ali, Omar A. Mahroo, Andrew R. Webster, Kaoru Fujinami, Michel Michaelides Tags: Original Articles Source Type: research