Table 2 of
Kannabiran, Mol Vis 2012; 18:1165-1174. Table 2 of
Kannabiran, Mol Vis 2012; 18:1165-1174.
Table 2. Clinical features of patients with ARRP
| Patient id | Gene involved | Age at onset | Age at presentation/sex | Symptoms | Visual acuity |
Fundus features |
ERG |
Fields |
|---|---|---|---|---|---|---|---|---|
| A-1 | TULP1 | 8 year | 14 years /M | Decreased vision (night> day) & decreased night mobility | 20/100 OU | Arterial narrowing; disc pallor, RPE degeneration; cellophane reflexes | Not done | Diffuse loss, not reliable |
| A-2 | TULP1 | 1 year | 9 years/M | 20/40 OD; 20/30 OS | Extinguished | Diffuse loss, | ||
| B-1 | NR2E3 | 4 year | 10 years/M | Decreased night vision | 20/20 OD; 20/25 OS | White flecks mid-periphery; healed gliotic scars at posterior pole | Sub-normal rod-cone type | Peripheral field loss |
| B-2 | NR2E3 | 4 year | 7 years/M | Decreased night vision; squint left eye | 20/25 OD; 20/400 OS (strabismic amblyopia) | |||
| C-1 | MFRP | 10 year | 29 years/M | Decreased night vision | 20/200 OD; 20/400 OS | Diffuse marbelised RPE degeneration, few pigments in periphery and minimal disc pallor | Extinguished | 10 degrees |
| C-2 | MFRP | 10 year | 28 years/M | Blurred vision, progressive nyctalopia | 20/100 OD 20/100 OS Hyperopia +13D | Sub normal rod cone type, scotopic and photopic flash ERG | Diffuse periphery, field loss 20 degrees | |
| C-3 | MFRP | 10 year | 21 years/M | Decreased night vision | 20/60 OD; 20/50 OS. Hyperopia +11D | Sub normal rod cone | 10 degrees |