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


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