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[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]
A Viestenz1, G C Gusek-Schneider, A G Jünemann
1Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen. Arne.Viestenz@t-online.de
Background:
Increased plasma galactitol levels may lead to development of bilateral pediatric cataract.
Patient:
A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval.
Results:
The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract.
Conclusions:
Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.