Table 1 of
Gregory-Evans, Mol Vis 2025; 31:175-188. Table 1 of
Gregory-Evans, Mol Vis 2025; 31:175-188.
Table 1. Patient clinical phenotype summary.
| Family ID | Age* | Sex | Retinal phenotype | Hearing loss (HL) |
|---|---|---|---|---|
| III-1 | 60 | M | Night-blindness at 17 years. BCVA: R 20/40, L 20/50. Optic nerve pallor, near mid-peripheral chorioretinal atrophy. | Began at 10 years. PTA 67.5 dB HL, MS-S. |
| III-3 | 57 | M | No symptoms. BCVA: R/L 20/20. Normal retina examination. | No HL |
| III-4 proband | 50 | M | Night-blindness at 23 years. BCVA: R 20/20, L 20/30. Bone spicule retinopathy extending into the far periphery in each eye. | Began at 9 years. PTA 57.5 dB HL, M-MS. |
| III-6 | 58 | F | Poor vision at 32 years. BCVA: R 20/70, L, finger counting only. Mid peripheral chorioretinal atrophy with macular sparing. | Began at 37 years. PTA 45.0 dB HL, M-MO. |
| IV-1 | 20 | F | No symptoms. BCVA: R/L 20/25; normal retina exam. | No HL |
| IV-2 | 31 | F | No symptoms. BCVA: R/L 20/20; normal retina exam; no VF defect. | No HL |
| IV-3 | 29 | F | No symptoms. BCVA: R/L 20/20; normal fundus exam; no VF defect. | No HL |
| IV-4 | 24 | M | No symptoms. BCVA: R/L 20/20; Mild pigmentary retinopathy. | Began at 16 years. PTA 43.7 dB HL, MO. |