Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes. The aim of the study is to identify the genetic defects underlying Waardenburg syndrome in a large family with multiple affected individuals.

The clinical characteristics of Duane retraction syndrome in Al-Medina region.

Purpose: To assess the clinical characteristics of Duane Retraction Syndrome (DRS) in Al-Medina region, in patients attending a pediatric ophthalmology clinic at Ohud Hospital.

Method: A cross-sectional observational study was conducted from October 2017 to June 2018 at Ohud Hospital, Al-Medina region, Saudi Arabia. Data was collected using a sheet containing eighteen simple items which include demographic data, family history, surgical history, the clinical characteristics of the disease and the physician's treatment plan.

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Objectives: Waardenburg syndrome is a rare genetic disorder. It is characterized by sensorineural hearing impairment and pigment defects of the skin, hair and iris. In some cases abnormalities in the tissues derived from neural crest have also been reported.

Novel homozygous loss-of-function mutations in and genes in retinitis pigmentosa patients.

: Retinitis pigmentosa (RP) is a heterogeneous group of ocular dystrophy. It is challenging to identify the underlying genetic defect in individuals with RP due to huge genetic heterogeneity. This study was designed to delineate the genetic defect(s) underlying RP in extended Saudi families and to describe the possible disease mechanism.