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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease retinal degeneration
Comorbidity C0029124|optic atrophy
Sentences 1
PubMedID- 20943885 Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial dna point mutations in complex i, is characterized by the selective degeneration of retinal ganglion cells, leading to optic atrophy and loss of central vision prevalently in young males.

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