Abstract

Purpose. We investigated whether a group of patients with keratoconus (KTCN) harbor mutations in the mitochondrial genome.

Methods. We sequenced the full mitochondrial genome in a group of Saudi patients with KTCN (n = 26) and 100 ethnically matched controls who had no KTCN by examination.

Abstract

Background

To evaluate total antioxidant status (TAS) in the plasma of primary angle closure glaucoma (PACG) patients and to compare it to that of the control group. Additionally, we aim to investigate the association of various PACG clinical indices with TAS level.

Methods

Abstract
Purpose. Keratoconic corneas exhibit more mitochondrial DNA (mtDNA) damage than do normal corneas and thus mtDNA may represent a potential candidate for genetic susceptibility studies in keratoconus. To test this hypothesis we determined mitochondrial haplogroups in Saudi patients with keratoconus and healthy controls of same ethnicity.
Methods. Mitochondrial haplogrouping was performed by polymerase chain reaction–based automated Sanger sequencing in 114 patients with keratoconus and 552 healthy controls.

ABSTRACT: Objective: Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans includingbilateral profound deafness. This study evaluates the possible role of HOXA1 mutations in familial, non-syndromic sensorineuraldeafness.
Methods: Forty-eight unrelated Middle Eastern families with either consanguinity or familial deafness were identified in a
large deafness clinic, and the proband from each family was evaluated by chart review, audiogram, neuroimaging, and HOXA1 sequencing.