| Autor: |
Cody Jahrig, Cristy A. Ku, Molly Marra, Mark E. Pennesi, Paul Yang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101842- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2451-9936 |
| DOI: |
10.1016/j.ajoc.2023.101842 |
| Popis: |
Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Observations: After performing large panel next generation sequencing genetic testing, there was no likely alternative genetic etiology for vitelliform maculopathy in this patient. Conclusions and Importance: We present a rare case of a visually asymptomatic pediatric patient with MELAS and vitelliform maculopathy, which may be part of the spectrum of retinal manifestations in MELAS. Pediatric-onset vitelliform maculopathy in MELAS may be under-diagnosed due to its asymptomatic nature. Given the known risk of choroidal neovascularization in vitelliform maculopathy, it is important to identify these patients for proper surveillance. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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