FAMILIAL OCCURRENCE OF COMBINED PIGMENT EPITHELIAL AND RETINAL HAMARTOMAS ASSOCIATED WITH NEUROFIBROMATOSIS-2

被引：32

作者：

BOUZAS, EA ^{[1
]}

PARRY, DM ^{[1
]}

ELDRIDGE, R ^{[1
]}

KAISERKUPFER, MI ^{[1
]}

机构：

[1] NEINDS,9000 ROCKVILLE PIKE,1010N226,BETHESDA,MD 20892

来源：

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES | 1992年 / 12卷 / 02期

关键词：

COMBINED PIGMENT EPITHELIAL AND RETINAL HAMARTOMAS; FAMILIAL; MACULAR; NEUROFIBROMATOSIS-2; STAPHYLOMA;

D O I：

10.1097/00006982-199212020-00005

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Combined pigment epithelial and retinal hamartomas are rare lesions that usually occur sporadically in individuals without systemic abnormalities. However, they have been reported in isolated patients with neurofibromatosis 1 and 2. No familial cases have been reported. The cases of four patients with unilateral macular lesions from three consecutive generations of a single family are presented: two of the patients also have neurofibromatosis 2. The ophthalmoscopic appearance of their ocular lesions resembles combined pigment epithelial and retinal hamartomas. The morphologic differences in the lesions of these 4 patients, whose ages are 8 months, 5 years, 29 years, and 65 years, may serve to demonstrate the evolution of this type of hamartoma.

引用

页码：103 / 107

页数：5

共 34 条

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