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 cell density, corneal diameter, and lens assessment.

RESULTS:

Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), nystagmus (40% TTD), and infantile cataracts (56% TTD, 86% XP/TTD). Corrective lenses were required by 65% of the participants, and decreased best-corrected VA was present in 28% of TTD patients and 71% of XP/TTD patients. Degenerative changes included dry eye (32% TTD, 57% XP/TTD) and ocular surface disease identified by ocular surface staining with fluorescein (32% TTD) that usually are exhibited by much older patients in the general population. The 2 oldest TTD patients exhibited clinical signs of retinal/macular degeneration. Four XP/TTD patients presented with corneal neovascularization.

CONCLUSIONS:

These TTD and XP/TTD study participants had a wide variety of ocular findings including refractive error, infantile cataracts, microcornea, nystagmus, and dry eye/ocular surface disease. Although many of these can be ascribed to abnormal development--likely owing to abnormalities in basal transcription of critical genes--patients may also have a degenerative course.

FINANCIAL DISCLOSURE(S):

Proprietary or commercial disclosures may be found after the references.

• Authors: Brian P Brooks, Amy H Thompson, Janine A Clayton, Chi-Chao Chan, Deborah Tamura, Wadih M Zein, Delphine Blain, Casey Hadsall, John Rowan, Kristen E Bowles, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, John J DiGiovanna, Kenneth H Kraemer
• Journal: Ophthalmology (Ophthalmology) Vol. 118 Issue 12 Pg. 2335-42 (Dec 2011) ISSN: 1549-4713 [Electronic] United States
• PMID: 21959366 (Publication Type: Journal Article, Research Support, N.I.H., Intramural)
• Copyright: Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Topics

• Abnormalities, Multiple (diagnosis, etiology)
• Adolescent
• Adult
• Cataract (congenital)
• Cell Count
• Child
• Child, Preschool
• Cornea (abnormalities)
• Endothelium, Corneal (pathology)
• Eye Abnormalities (diagnosis, etiology)
• Female
• Humans
• Infant
• Macular Degeneration (congenital)
• Male
• Microphthalmos
• Nystagmus, Congenital
• Trichothiodystrophy Syndromes (complications)
• Vision Disorders (congenital)
• Visual Acuity (physiology)
• Xeroderma Pigmentosum (complications)
• Young Adult