Intravitreal triamcinolone acetonide in Von Hippel & #8211;Lindau patient with novel mutation
Maryam Bunajem, Moustafa Magliyah, Yahya AlzahraniMiddle East African Journal of Ophthalmology 2020 27(3):188-190
von Hippel–Lindau (VHL) is a multisystemic inherited disease which most commonly affects the retina and central nervous system. The hallmark retinal manifestation of VHL in the eye is retinal capillary hemangioblastoma (RCH). Significant visual morbidity can result from exudative retinal detachments (ERDs) or tractional retinal detachments. Here, we present a 21-year-old male with long-standing poor vision in the right eye. On examination, he was found to have a massive ERD in the right eye with multiple RCH in both eyes. Genetic testing revealed a heterozygous (c.390dupT) mutation in the VHL gene. Intravitreal triamcinolone acetonide injection resulted in subretinal fluid absorption and near total resolution of ERD. Retinal flattening made RCH accessible for laser photocoagulation. Following multiple focal lasers to the RCH, the lesions were regressed with the flat retina and stable vision.
Source: Middle East African Journal of Ophthalmology - Category: Opthalmology Authors: Maryam Bunajem Moustafa Magliyah Yahya Alzahrani Source Type: research
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