Autosomal dominant optic atrophy can result from mutation of SSBP1, a protein essential for mitochondrial DNA replication and maintenance

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Abstract

OBJECTIVE:

Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown. This study aimed to identify novel ADOA-associated genes and explore their causality. 

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