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

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...

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Bibliographic Details
Main Authors: Ehab Abdelkader, Lama Enani, Patrik Schatz, Leen Safieh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-04-01
Series:Saudi Journal of Ophthalmology
Online Access:http://www.sciencedirect.com/science/article/pii/S1319453417301327