The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.

ABSTRACT: Purpose:To describe the coexistence of additional non-ocular genetic diseases in patients diagnosed with inherited retinal degenerations (IRDs). Methods:The study was based on a retrospective chart review of patients diagnosed with IRD and additional rare systemic diseases. The chart review included the ophthalmic and genetic aspects of each patient. The ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, cycloplegic refraction, retinal imaging (fundus photos, optical coherence tomography, and fundus autofluorescence), and electroretinography. Genetic testing included homozygosity mapping, whole exome sequencing, and Sanger sequencing. Results:Fifteen index cases diagnosed with IRDs and one or more rare systemic diseases were identified. Six of the fam

SUBMITTER: Ehrenberg M 

PROVIDER: S-EPMC6857777 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature