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Table 1 Clinical data of ADOA patients with deletions in OPA1.

From: Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Patient Age at diagnosis (y) BCVA at diagnosis Refraction, spherical equivalent Color vision, Farnsworth Panel D-15 Visual Field Disc and fundus appearance VEP
DOA101 23 0.4/0.3 -6.5/-7.0 Dyschromatopsia, tritan axis Normal outer boundaries, relative central scotoma Temporal pallor Borderline subnormal
DOA102 52 0.7/0.9 -3.5/-4.25    Temporal pallor Pathological
DOA103 12 1.0/1.0 (0.2/0.2 at age 37 y) -4.25/-3.5 Few errors on saturated, more on unsaturated, tritan axis Centrocoecal scotoma OU, age 37 y Small, evenly shaped disks N/A
DOA104 28 0.4/0.2 +0.75/+1.0 No significant abnormality Outer borders normal, mild relative central scotoma Small, evenly shaped disks Normal
DOA105 43 0.4/0.2 -3.75/-3.25 Tritan errors Outer borders normal, mild relative central scotoma Temporal pallor Borderline subnormal
DOA106 52 0.5/0.5 plano/plano N/A N/A Temporal pallor N/A
DOA107 54 0.1/0.3 plano/-2.75 Dyschromatopsia, no specific axis Outer borders normal Atrophy, temporal pallor Normal
DOA108 33 0.6/0.6 -1.25/-1.5 Mild trian-axis dyschromatopsia Outer borders normal Mild temporal pallor Normal
DOA109 30 0.3/0.4 +4.0/+3.0 Dyschromatopsia, no specific axis Outer borders normal, mild relative central scotoma Temporal pallor and atrophy Anomalous configuration
DOA110 16 0.3/0.3 -1.75/-1.25 Dyschromatopsia, no specific axis Outer borders normal, mild relative central scotoma Temporal pallor Delayed implicit times