Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.

ABSTRACT:

Purpose

Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene.

Methods

Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography (OCT) scans was performed. Full field electroretinogram (ffERG) was recorded. Molecular genetic testing was done using next-generation sequencing.

Results

Visual acuity was more reduced (range 20/300-20/40) in older siblings (age>30 years), than in younger (age <30 year

SUBMITTER: Abdelkader E 

PROVIDER: S-EPMC6010603 | biostudies-literature | 2018 Apr-Jun

REPOSITORIES: biostudies-literature