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

Stanford C. Taylor, Huber M. Vasconcelos, Paul Yang

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)80-82
Number of pages3
JournalAmerican Journal of Ophthalmology Case Reports
Volume13
DOIs
StatePublished - Mar 1 2019

Keywords

  • Best macular dystrophy
  • Retinal astrocytoma

ASJC Scopus subject areas

  • Ophthalmology

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