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[与眼齿指发育异常相关的遗传性青光眼]

[Hereditary glaucoma associated with oculodentodigital dysplasia].

作者信息

Tejada P, Eduardo Y W, Gutiérrez E, Barceló A, Sánchez J

机构信息

Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, España.

出版信息

Arch Soc Esp Oftalmol. 2011 Sep;86(9):292-4. doi: 10.1016/j.oftal.2011.04.006. Epub 2011 Jul 14.

Abstract

CASE REPORT

A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response.

DISCUSSION

ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP).

摘要

病例报告

一名20日龄新生儿因偶尔出现眼球震颤接受评估。其母亲患有眼牙指发育不良(ODDD)和青光眼。体格检查发现角膜微浑浊,水平眼球震颤。眼压测量显示右眼眼压为35毫米汞柱,左眼眼压为40毫米汞柱,眼底检查正常。她鼻梁狭窄,鼻孔狭窄,双手第四和五指并指。进行了双侧小梁切除术,效果良好。

讨论

ODDD是一种罕见的常染色体显性疾病,具有异质性表型表现。视力丧失最常见的原因是青光眼,需要长期随访并定期控制眼压(IOP)。

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