Purpose To report the retinal phenotype and the associated genetic and systemic findings in
patients with mitochondrial disease. Design Retrospective case series. Participants Twenty-
three patients with retinopathy and mitochondrial disease, including chronic progressive
external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD),
mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS),
Kearns-Sayre syndrome, neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome …