Ocular manifestations of trichothiodystrophy.

ABSTRACT:

Objective

Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and multisystem abnormalities. Many TTD patients have a defect in known DNA repair genes. This report systematically evaluates the ocular manifestations of the largest-to-date cohort of TTD patients and xeroderma pigmentosum (XP)/TTD patients.

Design

Case series.

Participants

Thirty-two participants, ages 1 to 30 years, referred to the National Eye Institute for examination from 2001 to 2010; 25 had TTD and 7 had XP/TTD.

Methods

Complete, age- and developmental stage-appropriate ophthalmic examination.

Main outcome measures

Visual acuity (VA), best-corrected VA, ocular motility, state of the ocular surface and corneal endothelial cel

SUBMITTER: Brooks BP 

PROVIDER: S-EPMC3230678 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature