Long-Term Follow-Up Study of Autosomal Dominant Optic Atrophy in an Australian Population

This study aimed to describe the phenotype of Australian patients with a clinical diagnosis of dominant optic atrophy (DOA) and provide long-term follow-up data on its natural history.

Retrospective analysis.

All patients with the clinical diagnosis of DOA observed during a 30-year period at a single tertiary referral center (Save Sight Institute, Sydney Eye Hospital, Sydney, Australia) with at least 12 months of follow-up were included in the study. Clinical characteristics were assessed with particular attention to change in visual acuity (VA).

There were 36 patients with DOA from 26 different Australian families. The most common clinical presentation of DOA was insidious onset of visual difficulties beginning in childhood. Mean (SD) age at diagnosis of DOA was 16 (14) years. During a mean follow-up period of 10.6 years (median, 10 years), 44% of study eyes had no change in VA, 35% had reduction of VA by 1 Snellen line, 13% had a reduction of VA by 2 Snellen lines, and 8% of the study eyes had a VA reduction of more than 2 Snellen lines. Six of 36 patients were legally blind at last follow-up.

There is considerable heterogeneity in the presenting VA and natural history of DOA between individual patients and within families with DOA, with VA ranging from 6/6 to hand motion perception. This study provides valuable information to aid the clinician counseling the long-term visual outcome in patients with DOA and their families.