[一代中伴有骨骼发育异常的常染色体显性玻璃体视网膜营养不良]

[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation].

作者信息

Lang G E, Laudi B, Pfeiffer R A

机构信息

Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.

出版信息

Klin Monbl Augenheilkd. 1991 Mar;198(3):207-14. doi: 10.1055/s-2008-1045954.

DOI:10.1055/s-2008-1045954

PMID:2056740

Abstract

We report on ten patients of four generations with autosomal dominant vitreoretinal dystrophy with different manifestation. The ophthalmological findings are retinal detachment, retinal holes, retinoschisis, lattice and snowflake degeneration, vitreoretinal adhesions, chorioretinal atrophy and peripheral pigment epithelial changes. Two sisters show growth retardation with skeletal anomalies most likely brachyolmia.

摘要

我们报告了四代人中的10例常染色体显性遗传性玻璃体视网膜营养不良患者，他们有不同的临床表现。眼科检查结果包括视网膜脱离、视网膜裂孔、视网膜劈裂、格子样和雪花样变性、玻璃体视网膜粘连、脉络膜视网膜萎缩以及周边色素上皮改变。两名姐妹表现出生长发育迟缓并伴有骨骼异常，很可能是短躯干侏儒症。