Clinical characteristics of patients with juvenile autosomal recessive retinitis pigmentosa, Leber’s congenital amaurosis, and juvenile isolated retinitis pigmentosa in whom mutations were identified in the present study
| Patient | Diagnosis | Age at last examination* | Age of onset* | Fundoscopic picture changes† | ERG reduction ⩾50%† | Visual field† | Nystagmus† | ||
|---|---|---|---|---|---|---|---|---|---|
| Pale optic disc | Narrow arterioles | Pigment changes‡ | |||||||
| *Age in years or months (m). | |||||||||
| †0 = no changes; 1 = changes reported or measured; –, missing data or not measured. ‡Pigmentary changes could be present either peripherally or throughout the entire retina, and could have the appearance of either typical bone spicules or non-specific pigmentary abnormalities. | |||||||||
| ARRP, autosomal recessive retinitis pigmentosa; IRP, isolated retinitis pigmentosa; LCA, Leber’s congenital amaurosis. | |||||||||
| 8432 | ARRP | 67 | <20 | 1 | 1 | 1 | – | 1 | 0 |
| 25378 | ARRP | 14 | 5 | 1 | 1 | 1 | 1 | 0 | 0 |
| 25855 | ARRP | 67 | 20 | 1 | 1 | 1 | 1 | 1 | 0 |
| 9359 | LCA | 30 | 4 m | 1 | 1 | 1 | 1 | 1 | 1 |
| 22802 | LCA | 43 | 0 | 1 | 1 | 1 | 1 | – | 1 |
| 24670 | LCA | 35 | 6 m | 1 | 1 | 1 | 1 | 1 | 1 |
| 26669 | LCA | 3 | 0 | 0 | 0 | 1 | 1 | – | 1 |
| 25140 | IRP | 15 | 1.5 | 0 | 0 | 0 | 1 | 1 | 0 |
| 25474 | IRP | 32 | <20 | 0 | 0 | 0 | – | – | – |
| 25556 | IRP | 13 | 1.5 | 0 | 0 | 0 | 1 | 1 | 1 |
| 25718 | IRP | 24 | 14 | 1 | 0 | 1 | 1 | 1 | 0 |
| 26425 | IRP | 9 | 2 | 1 | 1 | 1 | 1 | 1 | – |