Table 1
Details of families participating in study
| Family | No examined | RP2 or RP3 (classification method) | Myopia in affected males (low <−5, high >−5) | Early onset night blindness in affected males (<10 years) | Tapetal reflex in carriers | Evidence of cone dystrophy affected males | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| male | female | ||||||||||||
| 1 | 2 | 3c | RP2 | (B) | None | No | None | No (ERG) | |||||
| 2 | 1 | 1c | RP2 | (B) | None | Yes | Yes | No | |||||
| 3 | 1 | 1c, 1nc | RP2 | (B) | High | Yes | None | No | |||||
| 4 | 1 | 2c | RP3 | (B) | Low | No | Yes | Yes | |||||
| 5 | 1 | 3c | RP3 | (B) | Low | Yes | Yes | Yes | |||||
| 6 | 1 | 1c | RP3 | (B) | Low | Yes | Yes | Yes | |||||
| 7 | 2 | 3c, 2nc | RP3 | (HA) | None | No | None | Yes | |||||
| 8 | 1 | 2c | RP3 | (HA) | None | Yes | Yes | No (ERG) | |||||
| 9 | 1 | 2c | RP3 | (HE) | Low | Yes | None | No | |||||
| 10 | 1 | 3c | RP3 | (B) | None | Yes | None | Unclear | |||||
| 11 | 1 | 1c, 1nc | RP3 | (HE) | Low | Yes | None | Yes | |||||
| 12 | 1 | 1c | RP3 | (HA) | None | No | None | No | |||||
| 13 | 1 | 1c | RP3 | (B) | Low | Yes | None | No | |||||
| 14 | 1 | 9c | RP3 | (B) | Low | Yes | Yes | Unclear | |||||
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↵c = carrier females, nc = non-carrier females. All males are affected.
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↵Classification method: B = genetic loci determined by both heterogeneity analysis and haplotype analysis; HA = genetic loci determined by haplotype analysis only; HE = genetic loci determined by hetergeneity analysis only.
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↵ERG indicates early electrodiagnostic testing.
