Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene.

ABSTRACT:

Purpose

To report retinitis pigmentosa and a history of polydactyly in a Bardet-Biedl syndrome mutation carrier.

Observations

A 25-year-old male presented to the clinic complaining of poor visual acuity since childhood, night-blindness, and progressive peripheral vision loss. The patient also had a history of polydactyly in both feet. Ophthalmic evaluation was remarkable for a best-corrected visual acuity of 20/400 in both eyes. Imaging revealed a "salt-and-pepper" appearance surrounding the macula, bone-spicule retinal pigment epithelium hyperplasia, paravenous retinal pigment epithelium hyperplasia, and arteriolar attenuation. In addition, bilateral macular autofluorescence with a surrounding granular hypoautofluorescence and an additional hyperautofluorescent zone was pre

SUBMITTER: Guardiola G 

PROVIDER: S-EPMC8273909 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature