has material basis in germline mutation in OPA1 autosomal dominant optic atrophy, classic form https://www.malacards.org/card/autosomal_dominant_optic_atrophy_classic_form https://www.malacards.org/card/optic_atrophy_1 autosomal dominant optic atrophy, Kjer type UMLS:C0338508 OMIM:165500 Orphanet:98673 SCTID:717336005 DOID:0111441 MONDO:0008134 optic atrophy type 1 OAK Kjer optic atrophy One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects. GARD:0009890 MEDGEN:137902 OPA1 optic atrophy 1 mitochondrial oxidative phosphorylation disorder autosomal dominant optic atrophy