Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

ABSTRACT: PURPOSE:To report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in SPATA7, and describe the progression over a two year follow-up period. METHODS:Retrospective case study. RESULTS:A 63-year-old man with a long history of nyctalopia, progressive visual field constriction, and a recent subacute decrease in visual acuity of the left eye presented for evaluation of a suspected retinal degeneration. Multimodal retinal imaging and functional assessment with full-field electroretinogram suggested a severe rod-cone dysfunction masquerading as a choroideremia-like phenotype. A vitreous opacity was found to explain recent changes in the left eye and a 25-guage vitrectomy and membrane peel was performed, yielding no change in visual acuity. Whole-exome se

SUBMITTER: Sengillo JD 

PROVIDER: S-EPMC6015729 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature