Table 4.

Clinical Features of Affected Individuals from Families with ARRP

Family/Gene Mutation	Patient*	Age at Presentation (y)	Age at Onset (y)	Initial Symptoms	Fundus Appearance	Visual Acuity	ERG	Diagnosis
RP205/RPE65	IV:1	7	1	Night blindness	Arterial narrowing; widespread white dots in the periphery, due to RPE atrophy	20/60 OD; 20/50 OS	Extinguished	Early-onset RP
	IV:2	5	1			Teller Acuity: 20/63 OU	ND
RP170/RP1	II:1	19	NA, childhood	Night blindness, reduced vision	Equatorial and macular RPE degeneration, pale disc, arterial narrowing, vitreous opacities	OD 20/60; OS- counting fingers at 1 meter	ND	RP with macular degeneration
	II:2	17	5			20/50 OU	ND
RP126/TULP1	IV:1	22	NA, childhood	Night blindness, reduced vision	RPE degeneration, pigment migration, arterial narrowing with prominent macular degeneration, optic disc pallor	20/200 OD; 20/200 OS	Extinguished	Advanced RP
	IV:2	19	NA, childhood	Night blindness, reduced vision; nystagmus		20/400 OD; 20/600 OS	Extinguished
RP169/RLBP1	IV:3	16	NA, childhood	Night blindness, progressive loss of vision	RPE degeneration, pigment migration, arterial narrowing with macular sparing, discs normal, peripheral visual field constriction	20/50 OU	ND	Typical RP
	IV:5	12	NA, childhood			20/50 OU	ND
P213/ABCA4	IV:4	19	11	Progressive visual loss	Equatorial RPE degeneration, pale disc, arterial narrowing, vitreous opacities, and a large patch of macular atrophy	20/200 OU	Rod-cone pattern	RP with atrophic maculopathy
	IV:3	21	13			20/200 OU	Rod-cone pattern

NA, not available; ND, not done.

^*Individual ID corresponds to the ID in the pedigree.