Retinitis pigmentosa associated with a mutation in BEST1.

ABSTRACT:

Purpose

There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. Here, we present a patient with a clinical phenotype consistent with classic features of RP.

Observations

The patient in this report was diagnosed with simplex RP based on clinically-evident bone spicules with characteristic ERG and EOG findings. The patient had associated massive cystoid macular edema which resolved following a short course of oral acetazolamide. Genetic testing revealed that the patient carries a novel heterozygous deletion mutation in BEST1 which is not car

SUBMITTER: Dalvin LA 

PROVIDER: S-EPMC5757359 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature