Practical Reviews

Natural History of Dominant Optic Atrophy

Background: Autosomal dominant optic atrophy is a heterogeneous disease secondary to a mutation in the OPA1 gene. These patients typically present in the first decade of life with slightly subnormal acuity, dyschromatopsia, central visual field loss, and optic disc pallor. Objective: To assess progression of visual loss over time by providing follow-up of patients with genetically confirmed dominant optic atrophy (DOA). Design: Prospective and retrospective observational case series. Participants: 69 patients from Australia. Methods: Only patients with a confirmed OPA1 gene mutation and no other ocular disease were included. Acuity testing was reported in logMAR equivalents for all patients. Color vision was tested using the Farnsworth-Munsell 100 Hue test. Visual fields were assessed using the Humphrey 24-2 SITA program. Quantitative optic nerve analysis was performed using customized software. Longitudinal data were acquired through past records or by ongoing evaluation by the inve more...

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