Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

ABSTRACT:

Purpose

To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation.

Methods

An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that incorporated the International Society for Clinical Electrophysiology of Vision standards and methodology, fundus autofluorescence (FAF) and infrared (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings were achieved with DNA analysis using whole exome sequencing (WES) and Sanger sequencing.

Results

The proband, a 9-year-old boy, presented wi

SUBMITTER: Dias MS 

PROVIDER: S-EPMC5360453 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature