Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

ABSTRACT:

Background

Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects.

Materials and methods

Six members from a non-consanguineous Indian family (three affected siblings, their asymptomatic parents and an asymptomatic child) were characterized clinically, using visual acuity, perimetry, full-field electroretinography (ERG), optical coherence tomography and cone structure as outcome measures. Cone photoreceptors were imaged in the proband using adaptive optics scanning laser ophthalmoscopy. The exome was captured using Nimblegen SeqCap EZ V3.0 probes and sequenced using lllumina HiSeq. Reads were mapped to reference hg19. Confirmation of variants and se

SUBMITTER: Duncan JL 

PROVIDER: S-EPMC4289132 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature