Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy

Purpose: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma.

Observations: 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 BEST1, but not TSC1 or TSC2.

Conclusions and importance: 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.