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K. Ma, L. Gao, N. Liu, F. Zgang; Retinal Capillary Hemangioma in Chinese People: Clinical and Genetic Investigations. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4110.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the clinical manifestation of retinal capillary hemangioma in von Hippel-Lindau (VHL) disease, the genetic alterations, and the molecular genetic properties in Chinese people.
In this prospective case-series, 31 patients with retinal capillary hemangioma had ocular examination and genetic mutations detection, using polymerase chain reaction amplification.
14 of the 31 patients are males, the others are females, the average age is 27. Visual acuity from 20/20 to 20/400 .15 of them met the clinical diagnosis criterion of von Hippel Lindou disease,11 of them were affected in both eyes(35%), 7 of them(8 eyes) have juxtapapillary capillary retinal angioma and 7 eyes with submacular fluid. 26 patients(35eyes) have periphery retinal angiomas. According to Lane’s classification 14 retinal angiomas were in stage 1, 25 in stage 2, 20 in stage 3, 27 in stage 4. Genetic mutations were detected in 14 patients , 10 of them were VHL patients and the other four did not meet the clinical diagnosis criterion. In all of the mutations 11 were missense , 1 was deletion, 2 were insert; 9 mutation were found in the first exon , 1 in the second, 4 in the third.
retinal capillary hemangioma is a rare fundus disease which can induce servere visual damage, most of the affected are VHL patients and the lesions often affect both eyes. mutation screen is helpful in early diagnosis of the disease especially in the asymptomatic carriers.
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