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 |