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OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
Barboni Piero, Carbonelli Michele, Savini Giacomo, Foscarini Beatrice, Parisi Vincenzo, Valentino Maria L et al.
OphthalmologyAug 201046 citationsCross-Sectional Study
OPA1 mutations in dominant optic atrophy patients cause significantly smaller optic nerve heads, a finding that may be mutation-specific and relevant for disease pathogenesis and normal ONH size variation.