Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy.
| Autor: | Taylor SC; Casey Eye Institute at Oregon Health & Science University, United States., Vasconcelos HM Jr; Casey Eye Institute at Oregon Health & Science University, United States.; Department of Ophthalmology and Visual Sciences, Federal University of Sao Paulo (UNIFESP), Brazil., Yang P; Casey Eye Institute at Oregon Health & Science University, United States. |
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| Jazyk: | angličtina |
| Zdroj: | American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2018 Dec 11; Vol. 13, pp. 80-82. Date of Electronic Publication: 2018 Dec 11 (Print Publication: 2019). |
| DOI: | 10.1016/j.ajoc.2018.12.009 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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