20922 | ABCA4 | c.768G>T | p.Val256Val/aberrant splicing | M | CRD | 7 | 17 | CF | 20/200 | Optic disc pallor, attenuated vessels, atrophic macula with pigmentary clumping, peripheral degeneration | NA | Central scotoma, peripheral field relatively intact |
18389 | CRB1 | c.482C>T | p.Ala161Val | M | RP | 8 | 40 | LP | LP | Severe pigmentary retinopathy, colobomatous macular appearance | NR | NP |
16544 | EYS | c.6799_6800del | p.Gln2267GlufsX15 | M | RP | 15 | 39 | 20/50 | 20/40 | Waxy optic disc, moderately attenuated vessels, peripheral bone spicules | NR | Marked decrease, small temporal islands |
22891 | EYS | c.4350_4356del | p.Lys1450LysfsX3 | M | RP | 17 | 25 | 20/20 | 20/25 | Pink optic disc, attenuated vessels, cystoid maculopathy, mild RPE atrophy in the midperiphery, with scarce bone spicules | SR | Intact periphery, midperipheral sensitivity loss, para-central scotoma |
26722 | EYS | c.6714del | p.Pro2238ProfsX16 | M | RP | 22 | 42 | 20/25 | 20/25 | Waxy optic disc, attenuated vessels, mild peripheral bone spicules | NR | Marked constriction |
43329 | LRAT | c.519del | p.Ile174SerfsX12 | F | RP | 5 | 7 | CF | 20/320 | Pink optic disc, vessels normal, preserved RPE posterior pole, subtle RPE changes in the periphery | NR | NP |
18864 | MERTK | c.1179dup | p.Leu394SerfsX3 | F | RP | 13 | 26 | 20/300 | 20/160 | Attenuated vessels, RPE changes in the macula, RPE atrophy in the periphery, with bone spicules | NR | Severely constricted |
25688 | MERTK | c.2531G>C | p.Arg844Pro | M | RP | 16 | 46 | CF | CF | Attenuated retinal vessels, peripheral pigmentations | NA | NA |
17959 | NR2E3 | c.310C>T | p.Arg104Trp | M | ESCS | 12 | 16 | 20/20 | 20/20 | Pink optic disc, sheathing of peripheral vessels, RPE changes in the macula, round atrophic RPE spots in the midperiphery with nummular pigmentations | Typical† | Intact periphery, central sensitivity loss |
22565 | NR2E3 | c.724_725del | p.Ser242GlnfsX17 | M | ESCS/CPRD | 7 | 61 | 20/80 | 20/63 | Pink optic disc, vascular sheathing, RPE changes in the macula, pronounced atrophy of RPE in the periphery with subretinal pigmentations | NR‡ | Severely constricted |
23718 | NR2E3 | c.119–2A>C | Aberrant splicing | M | ESCS | 19 | 25 | 20/63 | 20/100 | Pink optic disc, mild attenuated vessels, schisis macula, round atrophic RPE spots midperiphery with nummular pigmentations | Typical† | Intact periphery, midperipheral and central sensitivity loss |
32666 | NRL | c.508C>A | p.Arg170Ser | M | CPRD | 10 | 30 | 20/125 | 20/200 | Pink optic disc, attenuated arterioles, cystoid maculopathy RE > LE, peripheral patchy RPE atrophy with small nummular pigmentations | NR | Moderately constricted, midperipheral and central sensitivity loss |
20966§ | PDE6A | c.305G>A | p.Arg102His | F | RP | 20 | 57 | 20/400 | 20/80 | Attenuated retinal vessels, peripheral pigmentation | NR | Severely constricted |
34219 | PDE6A | c.1166C>T | p.Pro389Leu | F | RP | 24 | 27 | 20/20 | 20/20 | Optic disc pallor, attenuated vessels, preserved macula with inner limiting membrane wrinkling, RPE atrophy periphery with bone spicules | NR | Large, midperipheral annular scotoma |
29998 | PDE6B | c.2399del | p.Leu800ArgfsX17 | M | RP | 16 | 47 | 20/63 | 20/63 | Optic disc pallor, attenuated vessels, atrophic maculopathy, perimacular remnant of normal RPE, RPE atrophy periphery with bone spicules | NA | NA |
20463 | RDH12 | c.164C>T | p.Thr55Met | M | LCA/RP | 5 | 5 | 20/160 | 20/60 | Severe diffuse loss of RPE | NA | Severely constricted |
22218 | RDH12 | c.315C>G | p.Ile105Met | F | RP | 24 | 25 | 20/50 | 20/80 | Optic disc pallor, attenuated vessels, with sheathing, pericentral RPE atrophy involving the macular region with bone spicules | NR | Moderately constricted, midperipheral and central sensitivity loss |
33672 | RDH12 | c.658+591_*603 +669delinsCT | Deletion C-terminus | M | RP | 26 | 29 | 20/400 | 20/400 | Optic disc pallor, attenuated vessels with sheathing, atrophic maculopathy, RPE atrophy of posterior pole and periphery with bone spicules and white dot lesions | NR | Severely constricted |
37799 | RGR | c.196A>C | p.Ser66Arg | M | RP | 6 | 36 | LP | LP | Pink optic discs, attenuated vessels, RPE changes macula, paving-stone-like degeneration in the periphery, RPE atrophy and bone spicules | NP | NP |
42981 | RHO | c.759G>T | p.Met253Ile | M | RP | 16 | 18 | 20/25 | 20/25 | Pink optic disc, attenuated vessels, cystoid maculopathy, atrophy RPE periphery with bone spicules | NR | Intact periphery, midperipheral sensitivity loss |
8640 | RLBP1 | c.214G>C | p.Ala72Pro | M | RP | 41 | 53 | 20/25 | 20/20 | Attenuated vessels, perifoveal RPE changes, RPE atrophy along inferior arcade, no dots | SR | Pericentral scotoma |
44014 | RLBP1 | c.525_954del | Deletion C-terminus | F | RPA | 24 | 32 | 20/63 | 20/40 | Narrowed retinal vessels, small white dots characteristic of RPA | NR | Incomplete ring scotoma |
25846 | RP1 | c.686del | p.Pro229GlnfsX35 | M | RP | 13 | 30 | HM | LP | Optic disc pallor, attenuated vessels, subfoveal RPE atrophy, peripheral RPE atrophy with bone spicules | NR | NP |