Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report
Vandenberghe, K.; Casteels, I.; Vandenbussche, E.; De Zegher, F.; De Boeck, K.
Bulletin de la Societe Belge d'Ophtalmologie 2001(282): 15-18
2001
ISSN/ISBN: 0081-0746 PMID: 12455135 Document Number: 530131
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.