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Taylor, Stanford C; Vasconcelos, Jr, Huber M; Yang, Paul
American journal of ophthalmology case reports, 03/2019, Volume: 13Journal Article
To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma. A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. There were no extraocular signs or symptoms that were diagnostic of a phakamatosis. Genetic testing was positive for a mutation in , but not or . Retinal astrocytic hamartoma is an unusual association with Best macular dystrophy, and this case highlights the balanced approach needed to navigate a potentially complex work-up.
