Table 1. Clinical characteristics of affected family members.

Family	Pedigree subject	Gene [Variant 1]; [Variant 2]	Onset age	First symptom	Age at time of the genetic assessment	Symptoms at time of the genetic assessment	Fundus examination	ERG scotopic/photopic
RP 453	IV:1 (index)	RHO [c.937-2_944del];[ = ]	10	Night blindness	33	Night blindness then visual field constriction leaving only the central 20° functional and preserved visual acuity. Photophobia.	Bone spicules in the periphery, optic disc pallor and preserved macula	N.A.
	III:2		7	Night blindness	57	Night blindness then visual field constriction leaving only 5° functional and decreased visual acuity (since age 35). Photophobia. Posterior subcapsular cataract.	Widespread deposition of bone-spicules, narrowed vessels.	N.A.
	III:3		6	Night blindness	54	Night blindness then visual field constriction and decreased visual acuity (since age 30). Epiretinal membrane (macular pucker) in one eye.	Widespread deposition of bone-spicules, optic disc pallor and narrowed vessels.	N.A.
	III:6		12	Night blindness	49	Night blindness then visual field constriction leaving only 15° functional and decreased visual acuity.	Diffuse hypopigmentation with bone spicules changes in the periphery. Preserved macula.	N.A.
	IV:4		9	Night blindness and decrease of visual field	13	Night blindness then visual field constriction leaving only 20° functional. Preserved visual acuity.	Bone spicule pigmentation in the periphery. Preserved macula.	N.A.
	IV:5		13	Night blindness	14	Night blindness	Some bone spicules in the periphery, preserved macula and optic disc. Narrowed vessels.	N.A.
RP 255#	II:4 (index)	C2orf71 [p.Cys599Arg]; [p.Cys599Arg]	12	Night blindness	38	Night blindness, visual field constriction, decreased visual acuity, photophobia and abnormal color vision	Pale optic nerve disc, narrowed blood vessels and bone spicule pigmentation in the periphery	N.A.
RP 19	II:2 (index)	ABCA4 [p.Arg681*]†; [p.Arg2030*]‡	4	Night blindness, decrease of visual acuity	32	Campimetry very altered and little assessable by the decrease of visual acuity, Night blindness	Waxy optic disc pallor, bone spicule pigmentation	N.R./N.R.
	II:4		5	Decrease of visual acuity	32	Campimetry not practicable dyschromatopsia	Waxy optic disc pallor, bone spicule pigmentation (areas not specified)	N.R./N.R.
	II:6		4	Decrease of visual acuity	30	Campimetry not practicable, dyschromatopsia	Waxy optic disc pallor, bone spicule pigmentation (areas not specified)	N.R./N.R.
RP 15	III:2 (index)	RPGR [p.Glu802Glyfs*31]¥ Hemizygous	5	Night blindness	29	Night blindness, visual field constriction, decreased visual acuity, nystagmus. Myopia	Bone spicule pigmentation in the periphery	N.A.
	III:5		11	Night blindness	23	Night blindness, visual field constriction, decreased visual acuity. Blue-yellow dyschromatopsia. Myopia	Bone spicules in the periphery, optic disc pallor and preserved macula	N.A.

# Consanguineous family

^†Previously reported by Maugeri et al. [24] in a Stargardt patient in heterozygous state.

^‡Previously reported by Lewis et al. [25] in a Stargardt patient in heterozygous state.

^¥Previously reported by Vervoort et al. [23].

N.A.: Not available.

N.R.: Not recordable.