Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism

被引：8

作者：

Stone, DU ^{[1
]}

Siatkowski, RM ^{[1
]}

机构：

[1] Univ Oklahoma, Dept Ophthalmol, McGee Eye Inst, Oklahoma City, OK 73104 USA

来源：

JOURNAL OF AAPOS | 2005年 / 9卷 / 03期

关键词：

D O I：

10.1016/j.jaapos.2004.12.021

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations. We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8. A finding that has been described in several patients with trisomy 8 is a central corneal opacity, but there are no data regarding the natural history of this finding; the corneal opacity in our patient spontaneously improved. This case expands the clinical spectrum of this rare entity.

引用

页码：290 / 291

页数：2

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