Table 1 of
Hull, Mol Vis 2016; 22:626-635. Table 1 of
Hull, Mol Vis 2016; 22:626-635.
Table 1. Clinical summary.
| Patient (gender) Family number | Age of onset | Age last review | Latest VA, (Snellen) | Fundus features | Age at last electrophysiology, key findings |
|---|---|---|---|---|---|
| 1.1 (f) GC16236 | <65 years | 74 years | R 20/200 L 20/80 | Extensive areas chorioretinal atrophy anteriorly more than posteriorly, peripheral RPE hypertrophy | Not performed |
| 1.2 (m) GC16236 | 18 years | 46 years | R HM L HM | Extensive chorioretinal atrophy, some preserved anterior retina and well demarcated patches of posterior retina | 33 years: rod cone dystrophy of moderate severity with marked involvement at the level of the RPE |
| 2.1 (f) GC11527 | 45 years | 87 years | R HM L PL | Extensive chorioretinal atrophy with well demarcated areas of preserved anterior retina, peripheral RPE hypertrophy | 86 years: very severe generalized retinal dysfunction of rods (undetectable) and cones |
| 2.2 (m) GC11527 | 35 years | 71 years | R HM L 20/160 | Extensive chorioretinal atrophy sharply demarcated from preserved anterior retina, RPE hypertrophy | Not performed |
| 2.3 (m) GC11527 | 40 years | 48 years | R 20/40 L 20/30 | Foveal vitelliform lesions | Not performed |