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Longitudinal Visual Biomarkers in Dominant Optic Atrophy: A Systematic Review and Meta-Analysis.

Christopher A Ovens¹, John R Grigg^1,2,3, Clare L Fraser^1,3

¹Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, Sydney, Australia.

Clinical & Experimental Ophthalmology

|May 7, 2025

Summary

Dominant Optic Atrophy (DOA) is a progressive vision loss condition. This review found visual acuity decline was not significant, highlighting the need for new biomarkers in clinical trials.

Keywords:

autosomal dominant optic atrophy biomarkers review

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Area of Science:

Ophthalmology and genetics
Neuro-ophthalmology

Background:

Dominant Optic Atrophy (DOA) is a genetic condition causing progressive vision loss, typically starting in childhood.
Identifying reliable biomarkers is crucial for evaluating new therapies in clinical trials.

Approach:

A systematic review and meta-analysis were conducted on studies reporting longitudinal biomarker data in DOA patients.
Seven studies were included in the review, with four suitable for meta-analysis.

Key Points:

Visual acuity was the sole biomarker with available longitudinal data across the included studies.
The meta-analysis indicated no statistically significant rate of yearly visual acuity decline in DOA patients (0.022 LogMAR/year).

Conclusions:

The slow rate of visual decline in DOA necessitates careful consideration for clinical trial design.
Further natural history studies are essential to identify and validate alternative biomarkers for DOA.