Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy.
Am J Ophthalmol Case Rep
; 13: 80-82, 2019 Mar.
Article
en En
| MEDLINE
| ID: mdl-30582078
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Am J Ophthalmol Case Rep
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos