Ocular manifestations of trichothiodystrophy.

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Background:

• Trichothiodystrophy (TTD) is a rare autosomal recessive disorder.
• Characterized by sulfur-deficient brittle hair and multisystem abnormalities.
• Many TTD patients have defects in DNA repair genes.

Purpose of the Study:

• To systematically evaluate the ocular manifestations in a cohort of TTD and XP/TTD patients.
• To document the range and prevalence of eye conditions associated with these genetic disorders.

Main Methods:

• A case series design was employed.
• Thirty-two participants (ages 1-30) with TTD or XP/TTD underwent comprehensive ophthalmic examinations.
• Key assessments included visual acuity, ocular motility, and corneal and lens evaluations.

Main Results:

• Ocular abnormalities were frequent, including microcornea (44% TTD), infantile cataracts (56% TTD, 86% XP/TTD), and nystagmus (40% TTD).
• Reduced best-corrected visual acuity was observed in 28% of TTD and 71% of XP/TTD patients.
• Degenerative changes like dry eye (32% TTD, 57% XP/TTD) and corneal neovascularization (XP/TTD) were noted.

Conclusions:

• TTD and XP/TTD patients present with a wide spectrum of ocular findings.
• These include refractive errors, cataracts, microcornea, nystagmus, and ocular surface disease.
• Findings suggest both developmental abnormalities and a potential degenerative course impacting vision.