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. 2011 Dec;118(12):2335-42.
doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28.

Ocular manifestations of trichothiodystrophy

Brian P Brooks  1 , 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
Affiliations

Ocular manifestations of trichothiodystrophy

Brian P Brooks et al. Ophthalmology. 2011 Dec.

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.

PubMed Disclaimer

Conflict of interest statement

No conflicting relationship exists for any author.

Figures

Figure 1
Figure 1
Figure 2
Figure 2
Visual abnormalities in TTD and XP/TTD patients.20
Figure 3
Figure 3
Lens opacities and opacity morphology in TTD (Panel A) and XP/TTD (Panel B) patients.
Figure 4
Figure 4
Quantification of ocular surface damage in TTD-affected patients via epithelial surface staining with fluorescein.
See this image and copyright information in PMC

References

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