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Case Reports
Journal Article
Research Support, N.I.H., Intramural
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.
American Journal of Medical Genetics. Part A 2008 January 16
We report on two patients with severe Smith-Lemli-Opitz syndrome who acutely developed postnatal cataracts. These postnatal cataracts appear to be due to a different pathological mechanism and have a different clinical course than the typical congenital cataracts that occur in SLOS. The rapid development of these cataracts suggests that dysfunction or rupture of the lens capsule leading to acute osmotic shifts contributes to their formation. In addition, cataract formation in these patients was associated with conjunctival injection, fibrotic irido-lenticular adhesions, and capsular fibrosis. These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule.
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