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New research · Ophthalmology
Ophthalmology science · 5d
Cohort studyOphthalmology science · 2026

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Aymane Bouzidi, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas … Xavier Zanlonghi
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OphthalmologyCohort study

Visual acuity gradually worsens over time in this OPA1 optic atrophy family.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Aymane Bouzidi … Xavier Zanlonghi
Ophthalmology science · 2026
Purpose

Dominant optic atrophy (dominant optic atrophy) is a rare disease characterized by the chronic loss of retinal ganglion cells that transduce the visual information from the retina to the brain.

Methods

Thirty-nine individuals were included, 34 patients harboring a novel OPA1 10-kb deletion and 5 healthy controls.

n = 34 patients
0.018
Results
0.018
logMAR per year
on average, vision sharpness slowly declines a little more each year
n = 34 patients
More results

We disclosed the largest ever identified dominant optic atrophy family, with 64 nonsyndromic patients for whom we discovered a novel 10-kb deletion encompassing OPA1 exons 30 and 31.

More results

Ophthalmic examination revealed a consistent BCVAvariability, ranging from 0 (Snellen equivalent, 20/20) to 1.61 (20/815) logarithm of the minimum angle of resolution (logMAR), strongly correlated to retinal nerve fiber layer and ganglion cell layer thickness, but moderately with age and not with dyschromatopsia.

“
Conclusion · 1 of 2

The identification of a large OPA1 deletion in this dominant optic atrophy family illustrates the critical importance of screening for large genomic rearrangements in dominant optic atrophy genes and confirms the high intrafamilial phenotypic variability while correlating BCVA with retinal nerve fiber layer and ganglion cell layer thickness.

Conclusion · 2 of 2

FINANCIAL

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