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视盘的家族性疾病:一位母亲和女儿的病例介绍及文献综述

Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature.

作者信息

Hsu Chia Lee, Layton Christopher J

机构信息

Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia.

Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia ; Gallipoli Medical Research Institute, Greenslopes Private Hospital, Brisbane, Qld., Australia ; The University of Queensland School of Medicine, Brisbane, Qld., Australia.

出版信息

Case Rep Ophthalmol. 2015 Jul 29;6(2):251-9. doi: 10.1159/000437381. eCollection 2015 May-Aug.

Abstract

Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

摘要

视盘凹陷和视神经缺损是先天性视盘异常的例子。虽然视神经缺损可呈常染色体显性遗传,但视盘凹陷作为常染色体显性疾病尚未发现确凿的联系。我们描述了两例病例:一名患有视盘凹陷并发黄斑病变的女儿,以及她患有先天性视盘异常并发视乳头周围脉络膜新生血管形成的母亲。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8341/4553917/100bda1db466/cop-0006-0251-g01.jpg

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