EPOS

European Paediatric Ophthalmological Society

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31 A family with Trichothiodystrophy presenting with mild congenital cataract

Dollfus H. ^1,2, Speeg-Schatz C.¹, Caussade P.³, Porto F.¹, Sarrasin A.⁴, Jacques F.¹

Clinique Ophtalmologique, Service de Génétique Médicale, Service de Dermatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, Laboratoire de Génétique du Cancer, Villejuif, France

We present a consanguinous family in which two daugthers presented have mild congenital cataracts and trichothiodystrophy (TTD). The clinical description included the typical features for TTD with brittle hair, growth retardation, mild mental retardation. No photosensitivity was reported in this family. TTD is a rare autosomal recessive condition due to a defect in the Transcription Coupled Repair (TCR) of the DNA. The diagnosis was confirmed by studying the transcription after UV irradiation of cultured fibroblasts of the patients. At least 3 genes are invoved in this disorder: X-P, X-B and the yet uncloned TTD-A.