孤立性黄斑发育不全
Isolated foveal hypoplasia.
作者信息
Querques Giuseppe, Prascina Francesco, Iaculli Cristiana, Delle Noci Nicola
机构信息
Department of Ophthalmology, Policlinico Riuniti di Foggia, University of Foggia, Viale Pinto 1, Foggia, Italy.
出版信息
Int Ophthalmol. 2009 Aug;29(4):271-4. doi: 10.1007/s10792-008-9215-5. Epub 2008 Apr 10.
PURPOSE
To describe a patient with isolated foveal hypoplasia.
METHODS
A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both.
RESULTS
Following a complete ophthalmological examination and genetic studies, we were able to confirm the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient.
CONCLUSIONS
With this report we want to highlight the roles of OCT, FA and FRP in the diagnosis of such a singular condition as isolated foveal hypoplasia.
目的
描述一名患有孤立性黄斑发育不全的患者。
方法
对一名临床怀疑患有黄斑发育不全的55岁男性进行了全面的眼科检查，包括光学相干断层扫描（OCT）、荧光素血管造影（FA）和眼底相关视野检查（FRP）。还进行了眼皮肤白化病和无虹膜的突变筛查，但结果均为阴性。
结果
经过全面的眼科检查和基因研究，我们得以证实这名原本健康的患者临床怀疑的孤立性黄斑发育不全。
结论
通过本报告，我们想强调OCT、FA和FRP在诊断孤立性黄斑发育不全这种罕见病症中的作用。
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