Inherited retinal dystrophies (IRDs) are rare genetically heterogeneous disorders, characterised by photoreceptor (PR) disease and vision loss. Most IRDs are progressive involving varying degrees of rod and cone PR loss of function, such as in early-onset severe retinal dystrophy (EOSRD) with irreversible PR and vision loss before 5 years of age.1 Stationary conditions include achromatopsia (MIM: 262300), an autosomal recessive congenital severe cone dysfunction syndrome, with vision loss, light aversion and colour blindness but not PR degeneration.1 Mild progression of cone degeneration has been recently reported for achromatopsia in adulthood but never to the extent seen in EOSRD. We uncover rs890306703-C as a rare EOSRD-associated regulatory variant augmenting important gene-regulatory processes relevant for retinal homeostasis.
ResultsTwo retinal phenotypes in one familyIn a consanguineous Iraqi family, four out of six children diagnosed with achromatopsia had photophobia (II-1, II-2, II-3 and II-6), vision loss and nystagmus,…