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 |