ID | Sex | Race | Age | Night blindness, age of onset | VA right | VA left | Corneal crystals | DNA mutation | Predicted effect | Allelic state |
1 | Female | White | 45 | N/A | 20/32 | 20/50 | Yes | c.1169G>A | p.Arg390His | Homozygous |
2 | Male | White | 76 | 55 | N/A | N/A | No | c.71T>C | p.Leu24Pro | Homozygous |
3 | Male | Black | 42 | 32 | 20/30 | 20/40 | No | c.965_967delAAG | p.Glu322del | Homozygous |
4 | Male | White | 68 | 64 | N/A | N/A | Yes | c.332T>C, c.283G>A | p.Ile111Thr, p.Gly95Arg | Heterozygous |
5 | Male | White | 50 | 40 | 20/40 | 20/200 | Yes | c.1168C>T | p.Arg390Cys | Homozygous |
N/A, not available; VA, visual acuity.