title: 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.
  
  
  METHODS
  Case series.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  BACKGROUND
  Proprietary or commercial disclosures may be found after the references.
authors.affiliation: National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. brooksb@mail.nih.gov
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
authors.forename: Amy H
authors.initials: AH
authors.lastname: Thompson
authors.forename: Janine A
authors.initials: JA
authors.lastname: Clayton
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: Wadih M
authors.initials: WM
authors.lastname: Zein
authors.forename: Delphine
authors.initials: D
authors.lastname: Blain
authors.forename: Casey
authors.initials: C
authors.lastname: Hadsall
authors.forename: John
authors.initials: J
authors.lastname: Rowan
authors.forename: Kristen E
authors.initials: KE
authors.lastname: Bowles
authors.forename: Sikandar G
authors.initials: SG
authors.lastname: Khan
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Jennifer
authors.initials: J
authors.lastname: Boyle
authors.forename: Kyu-Seon
authors.initials: KS
authors.lastname: Oh
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology*; D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000151:congenital; D002452:Cell Count; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities; D004728:Endothelium, Corneal / Q000473:pathology; D005124:Eye Abnormalities / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000151:congenital; D008297:Male; D008850:Microphthalmos; D020417:Nystagmus, Congenital; D054463:Trichothiodystrophy Syndromes / Q000150:complications*; D014786:Vision Disorders / Q000151:congenital; D014792:Visual Acuity / Q000502:physiology; D014983:Xeroderma Pigmentosum / Q000150:complications; D055815:Young Adult