کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2700384 1565150 2012 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی چشم پزشکی
پیش نمایش صفحه اول مقاله
Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1
چکیده انگلیسی

We report a family of three siblings followed between 2005 and 2011 with bilateral combined hamartoma of the retina and retinal pigment epithelium, with the age of diagnosis ranging from 7 to 13 years. The main reason for consultation was reduction of vision and squint. The diagnosis was determined based on the clinical findings on fundus examination: increased pigmentation at the macula with slightly elevated, gray–white macular lesion, tortuosity of perimacular blood vessels and glial epiretinal membrane. The elder brother was found to have left posterior subcapsular cataract. He was also confirmed to have neurofibromatosis type 1, the youngest sister fit in the diagnostic criteria for neurofibromatosis type 1, while the middle sister was presumed to have neurofibromatosis type 1. Follow-up showed stability of the retinal lesion in the three cases, with the progression to develop right posterior subcapsular cataract in the elder sister.This report is aimed to demonstrate that the occurrence of bilateral combined hamartoma of the retina and retinal pigment epithelium could raise the possibility of associated neurofibromatosis.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Saudi Journal of Ophthalmology - Volume 26, Issue 2, April–June 2012, Pages 229–234
نویسندگان
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