| Autor: |
Schechet, Sid A., Sheyman, Alan T. |
| Zdroj: |
Journal of VitreoRetinal Diseases; November 2017, Vol. 1 Issue: 6 p407-410, 4p |
| Abstrakt: |
We report a case of an asymptomatic 40-year-old African American male who was referred to our clinic for evaluation of bilateral macular drusen. Medical history was remarkable only for diabetes mellitus type 1. Fundoscopy revealed a peculiar, bilateral pigmentary maculopathy. Further imaging included autofluorescence imaging that showed an irregular hypo- and hyperautofluorescent pattern consistent with severe retinal pigment epithelial (RPE) dysfunction. Optical coherence tomography supported outer retinal layer loss and RPE atrophy. Fluorescein angiography and electroretinography were also performed. Further discussion with the patient yielded a family history where 4 older siblings died in their teenage years from strokes and seizures. The patient was referred to a geneticist who ultimately diagnosed him with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, and genetic testing of his mitochondrial deoxyribonucleic acid identified an A3234G point mutation in the MT-TL1gene. |
| Databáze: |
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