Table 2 of Shen, Mol Vis 2022; 28:96-113.

Table 2. Clinical characteristics of the patients who visited outpatient department in 20 RP families.

Family No. Variants Patient No. Genotype Gender Age Disease Onset Age Disease Onset Syptom VA decreased Age BCVA OD BCVA OS IOP OD IOP OS Fundus Appearance OD ERG OU Humphery preserved visual field_OD Humphery preserved visual field_OS Complications
RP008 USH2A II:3 M1/M2 Male 53 15 NB 34 0.4 0.3 12 11 ARA,PBSL NA NA NA Hearing and Olfaction loss
RP015 USH2A II:1 M1/M2 Female 44 15 NB - 0.7 0.7 11 12 Slight PBSL,ARA,ONP NA 7.5 10 None
RP028 USH2A II:4 M1/M2 Male 57 15 NB 40 LP 0.3 18 16 PBSL,ARA,ONP D Fail to complete Fail to complete Hearng loss
II:5 M1/M2 Male 51 12 NB 40 HM HM 14 14 PBSL,ARA,ONP D 5 5 Early Cataract OU, hearing loss
RP033 USH2A II:3 M1/M2 Female 35 6 NB 20 0.7 0.5 12 12 PBSL,ARA,ONP D 7.5 5 None
RP026 CYP4V2 II:3 M1/M2 Female 40 20 NB 38 0.6 0.1 12.7 13 RF,profound RPE atrophy Rod D, cone decreased Temporal island Temporal island None
RP034 CYP4V2 II:2 M1/M2 Male 55 28 NB 40 HM HM 11 12 PBSL,proufound RPE atrophy,slight RF D Fail to complete Fail to complete None
II:3 M1/M2 Female 43 32 NB 40 0.05 0.05 11 12 Slight PBSL,proufound RPE atrophy,slight RF D Superotemporal island Superotemporal island None
RP037 CYP4V2 II:4 M1/M2 Male 52 38 PV 45 HM 0.7 14 13 RF,profound RPE atrophy,PBSL,ARA,ONP D Superotemporal island Superotemporal island None
II:5 M1/M2 Female 47 34 NB 39 HM 0.1 15 16 RF,profound RPE atrophy,PBSL,ARA,ONP D Temporal island Nasal island None
RP011 RP1 II:2 M1/M1 Male 53 3 PV 30 FC/1m FC/1m 14 15 slight pigments, profound RPE atrophy,ARA,ONP D Fail to complete Fail to complete OD ptosis since chronic cerebral circulation insufficiency
II:5 M1/M1 Male 43 20 PV 20 FC/40cm HM 9 11 slight pigments, profound RPE atrophy,ARA,ONP D 5 5 None
RP023 RP1 III:3 M1/+ Female 52 20 NB 25 0.4 0.6 9 12 PBSL,ARA,ONP D 5 7.5 None
RP025 RHO I:1 M1/+ Female 39 EC NB 13 LP HM 18 17 Can't be seen D Fail to complete Fail to complete OU early-onset cataract
II:1 M1/+ Female 14 EC NB - 0.3 0.5 15 13 PBSL,ARA,ERM D 24 24 OU ERM
RP038 RHO II:4 M1/+ Male 64 EC NB 40 LP LP NA NA PBSL,ARA,ONP NA NA NA NA
III:1 M1/+ Male 38 EC NB 35 1 0.3 14 18 Slight PBSL,ARA,ONP D 12.5 12.5 OU shallow anterior chamber
RP014 PRPF31 II:2 M1/+ Male 50 EC NB 30 0.5 0.5 11 11 PBSL,ARA,ONP,posterior RPE atrophy,ERM D 10 10 OU ERM
III:1 M1/+ Male 16 EC NB - 0.8 0.8 14 15 slight pigments,posterior RPE atrophy D 15 15 None
RP019 PRPF31 III:7 M1/+ Female 48 EC NB 35 0.01 0.1 10 12 PBSL,ARA,ONP D 7.5 5 None
III:1 M1/+ Female 68 EC NB 56 LP LP 9 11 PBSL,ARA,ONP D Fail to complete Fail to complete None
RP005 PRPF3 II:2 M1/+ Male 62 27 NB 40 NLP NLP 16 40 ARA,PBSL,ONP D Fail to complete Fail to complete Traumatic optic nerve injury (OU NLP) since 1996;OS glaucoma since 2012;OS atresia iridis
IV:4 M1/+ Female 10 2 NB - 1 1 14.8 13 Normal Rod severely decrease;cone moderately decreased periphera decreased to 15dB periphera decreased to 15dB None
RP010 RP2 III:2 M1 Male 18 EC NB NA 0.1 0.1 20.8 21 slight PBSL,ARA NA NA NA None
RP012 TOPORS V:1 M1/+ Female 22 6 NB - 1 1 15 14 PBSL,ARA,ONP NA 24 20 NA
RP018 EYS II:1 M1/M2 Female 37 10 NB 29 0.1 0.1 13 12 PBSL,ARA,ONP D 10 5 None
II:2 M1/M2 Male 35 8 NB 29 0.1 0.1 10 10 PBSL,ARA D 7.5 0 None
RP027 CNGA1 II:1 M1/M1 Female 40 EC NB 20 0.02 0.02 NA NA PBSL,ARA,ONP NA NA NA None
II:2 M1/M1 Male 39 EC NB 20 0.2 0.2 11 10 PBSL,ARA,ONP D 10 10 None
RP035 CNGB1 II:5 M1/M1 Male 64 5 NB 25 0.6 FC 16 11 dense pigments,ARA,ONP,profound RPE atrophy D 5 5 None
RP036 RPGR III:2 M1 Male 49 EC NB 40 0.3 0.3 9 9 PBSL,ARA,ONP D Temporal island 10 None
III:5 M1 Male 48 EC NB 35 FC FC 20 12 PBSL,ARA,ONP D 15 20 None
IV:2 M1/+ Female 30 EC NB - 0.2 0.3 15 14 Leopard fundus,slight PBSL, ARA,posterior RPE atrophy D 10 10 High myopia OD -14D OS -18D

HM, hand move; FC, Finger count; LP, light perception; NLP, no light perception; EC, early childhood which was defined as before 5; ARA, attenuated retinal arteries; ONP, optic nerve pale; PBSL, pigment bone spicule-like; RF, refractile crystals in fundus; RPE, retinal pigmental epithelium; D, diminished; NA, not applicable

Shen, Mol Vis 2022; 28:96-113. http://www.molvis.org/molvis/v28/96

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