类早衰症眼部表现1例

Naik Gajaraj T
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引用次数: 0

摘要

早衰综合征是一种非常罕见的以早衰变化为特征的遗传病。文献中有几种表型和变量,在某些情况下难以对特定综合征进行具体分类。它的发生是由于DNA修复基因的突变。最常见的眼部表现为眉毛和睫毛缺失、眉毛下垂、眼睑边缘改变、睑内翻、睑板腺功能障碍、严重干眼、角膜混浊、白内障、瞳孔模糊和杆状锥体营养不良。我们报告一个19岁的青少年,有以上所有的眼部表现,并有视网膜脱离的附加发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ocular manifestations in a case of progeroid syndrome
Progeria syndromes are very rare genetic diseases characterized by premature aging changes. There are several phenotypes and variables noted in literature in some cases difficult to specifically classify a specific syndrome. It occurs due to mutation in DNA repair genes. The most common ocular findings are loss of eyebrow and eyelashes, brow ptosis, lid margin changes, entropion, Meibomian gland dysfunction, severe dry eye, corneal opacity, cataract, poor mydriasis, and rod-cone dystrophy. We report this case with all the above ocular manifestations in 19year old teenager with additional finding being retinal detachment.
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