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

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.

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.