Table 3.

Clinical data of affected members from families with adRP due to PRPF31 mutations

Family and PRPF31 mutation	Patient	Age at time of testing	Age at time of diagnosis	Sex	Family history	Symptoms at time of diagnosis	BCVA OD/OS Refraction	Lens	Fundus examination	OCT	FAF
F273	CIC398	23	5	M	From North of Brittany Father affected and few	Night blindness	20/25 20/20 -6.25(-1.75)20° -5.50(-1.25)175°	clear	Normal disc color, narrowed retinal vessels, little RPE changes in the periphery,	Preserved foveal lamination	Loss of AF outside the vascular arcades, perifoveal ring of increased AF
F405	CIC00607	23	20	F	One sister affected, cousins on maternal side affected Mother not affected incomplete penetrance From French descent	Night blindness late teens	20/32 20/32 +0.75(-2.75)15° Plano(-1.75)175°	clear	Bilateral ERM Normal disc color; no narrowing of blood vessels; little changes in the periphery with few bone spicules	Bilateral ERM Bilateral CME	Perifoveal ring of increased AF; foveal changes due to CME
F28	CIC00034	42	18	F	Family from Cameroun, daughter mother and one brother affected, no notion of incomplete penetrance	Night blindness and visual field constriction	20/32 20/32 -3.25(-0.75)65° -3.25(-0.75)130°	Small posterior subcapsular opacities	Disc pallor narrowed, blood vessels, RPE changes in periphery, bilateral atrophic lesion off the fovea	Preserved foveal lamination	Loss of AF outside the vascular arcades, round eccentric parafoveal area of loss of AF, no ring of AF
F1706	CIC03777	44	8	F	Paternal grand-mother, great-grand mother and one great-uncle on father side affected, French family from Jewish Ashkenazi ancestry	Night blindness since age 7	20/125 20/160 +0.5(-1.25)40° +0.25(-1.50)155°	pseudophakic	Pale optic disc, narrowed retinal vessels	Preserved foveal lamination	Loss of AF outside the vascular arcades, patchy loss of AF within the posterior pole with no ring of AF
F700	CIC01171	44	43	M	One elder brother affected, one niece affected from one of his unaffected sister, one uncle on father side Incomplete penetrance family originating from the Mauritius Island	Visual field constriction, no real night blindness	20/32 20/25 -0.50(-3.75)15° -0.25(-3.75)175°	clear	Normal disc color, narrowed retinal vessels, RPE changes in the periphery	Preserved foveal lamination	Loss of AF outside the vascular arcades; small perifoveal ring of increased autofluorescence with some perifoveal areas of loss of AF
F108	CIC00140	31	23	F	Mother, maternal grand-mother affected; family from Ivory Coast	Night blindness since birth	20/500 20/200 +1.50(-1.25)95° +1.50(-1.25)75°	clear	No pale optic disc; narrowed retinal vessels, some RPE changes in the periphery	Foveal thinning	Loss of AF outside the vascular arcades, increased AF within the foveal region associated with some patchy loss of AF

BCVA Best Corrected Visual Acuity; CME: Cystoid Macular Edema; ERM: Epi Retinal Membrane; AF: autofluorescence; OCT: optic coherence tomography OD: Oculis dextra (right eye); OS: Oculis Sinistra (center eye); RPE: Retinal Pigment Epithelium.