Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Retinal dystrophy

Retinal dystrophy is observed with many disorders and various degrees of severity. It is characterized by dystrophy of the retina which may involve choroid. Clinical heterogeneity includes Leber Congenital Amaurosis, retinitis pigmentosa, and dominant cone-rod dystrophy.


The severest form is the early-onset retinal dystrophy, Leber congenital amaurosis. Milder forms include juvenile retinitis pigmentosa and cone-rod dystrophy.


Ciliopathies may show retinal dystrophy of various degrees of severity.
Leber congenital amaurosis
Leber congenital amaurosis is the severest early-onset form of retinal dystrophy.
Senior-Loken syndrome
Leber congenital amaurosis is a typical symptom of Senior-Loken syndrome.
Update: April 29, 2019