Table 1.
Normal control and retinal degenerative subjects identifying data.
| ID Index |
Age (yr) |
Gender | Clinical Diagnosis | Age of RD Onset (yr) |
Mutation | Visual Acuity | Family History | ERG-Jet Threshold (mA) |
|---|---|---|---|---|---|---|---|---|
| NC 1 | 47.5 | F | n/a | n/a | n/a | n/a | n/a | 0.55 |
| NC 2 | 27.0 | M | n/a | n/a | n/a | n/a | n/a | 0.80 |
| NC 3 | 24.0 | M | n/a | n/a | n/a | n/a | n/a | 0.60 |
| NC 4 | 41.8 | F | n/a | n/a | n/a | n/a | n/a | 1.00 |
| NC 5 | 31.4 | M | n/a | n/a | n/a | n/a | n/a | 0.65 |
| RD 1 | 42.1 | F | Leber’s congenital amaurosis (LCA) | 14 | CRXa | OU light perception | Relative with AMD & LCA | 4.5 |
| RD 2 | 32.0 | M | Bull’s eye cone-rod dystrophy Stargardt (Group 3) | 4 | ABCA4 G1725 | OU finger counting up to 1 ft | No family history | 1.6 |
| RD 3 | 56.7 | M | Retinitis pigmentosa | 14 | Not foundb | OU light perception | No family history | 2.5 |
| RD 4 | 52.2 | M | Retinitis pigmentosa | 20 | Not foundb | OU light perception | No family history | 5.8 |
| RD 5 | 35.7 | M | Retinitis pigmentosa | 4 | Not foundb | OU light perception | No family history | 1.0 |
AMD: age-related macular degeneration; F: female; LCA: Leber’s congenital amaurosis; M: male; NC: normal control; RD: retinal degenerative subject; OU: both eyes.
a
Novel, non-published CRX mutation.
b
Non-published, de novo mutation basedongene screening for CERKL, CNGB1, MERTK, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB, RPE65, USH3A, LRAT, and PROM1 (ARRPgenetest, Asper Ophthalmics, Tartu, Estonia).