Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.

ABSTRACT: A common inherited retinal disease is caused by mutations in RHO expressed in rod photoreceptors that provide vision in dim ambient light. Approximately half of all RHO mutations result in a Class B phenotype where mutant rods are retained in some retinal regions but show severe degeneration in other regions. We determined the natural history of dysfunction and degeneration of retained rods by serially evaluating patients. Even when followed for more than 20 years, rod function and structure at some retinal locations could remain unchanged. Other locations showed loss of both vision and photoreceptors but the rate of rod vision loss was greater than the rate of photoreceptor degeneration. This unexpected divergence in rates with disease progression implied the development of a rod function

SUBMITTER: Cideciyan AV 

PROVIDER: S-EPMC7387454 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature