title: Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report.
abstract: Trichothiodystrophy refers to a group of autosomal recessive disorders that have in common brittle sulphur-deficient hair (7). The abnormalities are usually obvious at birth and the clinical expression is variable. Ocular abnormalities are common with bilateral cataract being the most frequent one. We report on a four year old boy with trichothiodystrophy (complementation group TTD-A) who presented to us with strabismus, high myopia and bilateral cataract.
authors.affiliation: Dept. of Ophthalmology, University Hospitals St. Rafaël, Capucijnenvoer 33, 3000 Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: I
authors.initials: I
authors.lastname: Casteels
authors.forename: E
authors.initials: E
authors.lastname: Vandenbussche
authors.forename: F
authors.initials: F
authors.lastname: De Zegher
authors.forename: K
authors.initials: K
authors.lastname: De Boeck
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002386:Cataract / Q000175:diagnosis*; D002675:Child, Preschool; D005124:Eye Abnormalities; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009216:Myopia / Q000209:etiology*; D013285:Strabismus