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. 2015 Dec 15;5:18287. doi: 10.1038/srep18287

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