Condition: Optic Neuropathy


rs1057516062 in COX2;ND3;COX3;ATP8;ATP6 gene and Optic Neuropathy PMID 28027978 2017 In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

rs672601368 in KIF1A gene and Optic Neuropathy PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.