Table 2. Clinical information for 3 probands in which mutations in other retinal disease genes not previously associated with non-syndromic RP were found.
ID | Gene | Disease previously associated | Patient Clinical Phenotype | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Age (years) when patient first aware of | Best corrected visual acuity | Hearing defects | Electroretinogram (Amplitude μV, Implicit time ms) | |||||||
Night blindness | Vision loss | Dark-adapted | Light-adapted | |||||||
OD | OS | OD | OS | |||||||
5WY+Y.91 | CEP290 | Leber congenital amaurosis | 18 | 22 | OD 20/20 OS 20/20 | No | 12, 33 | 16, 35 | 11, 37 | 12, 36 |
5ES+3.87 | GPR98 | Usher syndrome | 37 | 37 | OD 20/20 OS 20/20 | No | 43, 12 | 40, 24 | 30, 37 | 30, 38 |
UFC+7.74 | GRM6 | Congenital stationary night blindness | 25 | 25 | OD 20/20 OS 20/25 | No | NR | NR | NR | NR |
All three patients underwent electroretinogram (ERG) tests following the ISCEV (International Society for Clinical Electrophysiology of Vision) standard. NR: not recordable