Goodwin Halima, Brooks Brian P, Porter Forbes D
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA.
Am J Med Genet A. 2008 Jan 15;146A(2):208-11. doi: 10.1002/ajmg.a.32084.
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.
我们报告了两名患有严重史密斯-勒米-奥皮茨综合征的患者，他们在出生后急性发生白内障。这些出生后白内障似乎是由不同的病理机制引起的，并且与史密斯-勒米-奥皮茨综合征中出现的典型先天性白内障有不同的临床病程。这些白内障的快速发展表明，晶状体囊的功能障碍或破裂导致急性渗透压变化，这有助于它们的形成。此外，这些患者的白内障形成与结膜充血、纤维性虹膜-晶状体粘连和囊膜纤维化有关。这些发现提示存在一种炎症成分，这与晶状体囊功能受损一致。
