Retinitis Pigmentosa, Late-Adult Onset

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6

C8orf37, PDE6B, PDE6A, CRX, RPGR, RPE65, PDE6G, LRAT, ABCA4, EYS, MERTK, IMPDH1, ROM1, RHO, USH2A, CRB1, CNGB1, RPGRIP1, GUCY2D, RP2, NRL, RBP3, CLRN1, RDH12, SAG, SPATA7, CNGA1, ARL6, AIPL1, REEP6, RGR, DHX38, GUCA1B, OFD1, IDH3A, IDH3B, PRPF8, RP1, FAM161A, TULP1, SNRNP200, PRPF31, CERKL, NR2E3, CA4, MAK, PRCD, PRPF3, RLBP1, PROM1, PCARE, CHM, ARL2BP, TOPORS, BBS1, CYP4V2, BEST1, DHDDS, KLHL7, IMPG2, HGSNAT, IFT140, PRPF6, BBS2, TTC8, AHI1, SCAPER, CLN3, IFT172, CDHR1, KIZ, FLVCR1, TTPA, ARL3, PRPF4, AGBL5, RP9, SLC7A14, FSCN2, POMGNT1, ZNF513, ZNF408, RBP4, ABHD12, UNC119, NEK2, AHR, TUB, SEMA4A, ATF6, IFT88, FOXI2, UBAP1L, CCZ1B, CROCC, PDAP1, FAM71A, KIAA1549, IRX5, ARHGEF18, C1QTNF5, PRTFDC1, SLC37A3, NAALADL1, CRB2, NGF, CEP250, CWC27, CCDC66, GRIN2B, PRPH2, AGTPBP1, SLC6A6, AIFM1, FGFR2, KL, MT2A, PTEN, MYO7A, CEP290, GUCA1A, RDH5, CDH23, IQCB1, MSTO1, CACNA1A, BBS4, ATXN7, USH1C, CFAP410, ATP6, PANK2, MKKS, BBS9, SLC24A1, PEX1, RP1L1, HADHA, PNPLA6, SDCCAG8, BBS12, NDUFAF5, RRM2B, PDHA1, NDUFS8, NDUFV2, LZTFL1, FOXRED1, POMT2, RCBTB1, TST, FKRP, BBS7, CNGB3, NCAPG2, NPHP1, MKS1, NDUFB11, SURF1, SDHB, PEX2, WDPCP, PRPH, NDUFV1, NDUFA13, SCN1A, SCO1, SDHA, SDHD, PHYH, TACO1, LIPT1, SLC19A1, NDUFA12, PEX5, NGLY1, ALMS1, LARGE1, NDUFS4, PRDX1, NDUFS3, POLR3A, MFSD8, ZDHHC24, RNASEH1, CTNS, ARL13B, TRIM32, NIPAL1, ECHS1, FASTKD2, ERCC3, POMT1, ERCC6, ERG, IFT27, NDUFAF6, BBS5, NDUFS2, CLRN1-AS1, COX20, CYGB, COX15, COX10, COX8A, COX7B, CDH23-AS1, ACOX1, C8orf37-AS1, MMACHC, JAG1, AMACR, AIRE, PET100, SDHAF1, ZFYVE26, PHF3, ATP1A2, BCS1L, NDUFS7, CAV1, TTLL5, VSX2, ERCC8, COX6B1, PRRT2, MTFMT, GSS, COL18A1, GMPPB, HADHB, ND1, ND2, ND3, ND4, ND5, ND6, TRNK, TRNL1, TRNN, TRNS1, TRNV, TRNW, TRIM37, BBS10, NDUFA2, NDUFA4, NDUFA9, NDUFA10, NDUFS1, SLC19A3, WFS1, BBIP1, COA8, HCCS, NDUFAF2, HADH, TMEM14B, COX14, PLXNA2, LSM2, TRNT1, CLU, MFRP, PCDH15, DHX16, PTPRC, SLU7, KLK3, SIGMAR1, NXNL1, CLTA, CNTF, NT5C2, RPE, PROS1, PLAG1, NPHP4, TIMP3, PSAT1, NPEPPS, MYP2, CXCR6, RIMS1, RRH, SLC19A2, EXOSC2, ADIPOR1, LPAR2, USP9X, COG4, VCP, EDN1, LCA5, PDC, ATN1, OTX2, OTC, CNOT3, MVK, LPCAT1, MMP9, EDNRA, RCC1, EPO, INS, FANCF, HSPA4, HK1, GNAT1, HIF1A, OPN4, GSN, SERPINF1, GPR42, NSMCE3, GRK1, ALDH3A2, SFRP2, ACKR3, ADRA1A, ARL2, ATXN2, CC2D2A, ADRA2B, WDR19, SOD3, PLIN2, SSTR4, BRS3, STC1, ACTB, NRG4, TWIST2, GRK7, POC5, ARMS2, MFT2, SAMD11, SAMD7, NOC2L, JAKMIP1, MIR204, POLDIP2, GUCY2EP, LIN28B, NPHP3, ARSI, RD3, CENPV, PITPNM3, INVS, CENPK, TENT5A, CYCS, DCUN1D1, TWNK, SLC2A4RG, TBX20, RDH11, PNPLA2, KIDINS220, NGB, MPP4, NYX, TNMD, ENFL2, TUT1, DNER, FTO, ELOVL6, ALG12, RNF19A, COQ8B, SETD2, KLF15, PDZD7, HKDC1, C5AR2, DNAJC17, ADGRV1, CEP78, GNPTG, AAVS1, THBS2, WHRN, MMP2, HMOX1, HK2, HGF, GRM5, GRM1, GRB10, GLO1, GK, GJB2, GDNF, GDF2, G6PD, FRZB, FN1, FGF5, FGF2, FBN2, HSP90AA1, IDH2, IFNG, INSR, MEIS2, MDH1, MAP1A, SMAD4, LTB, LAMP1, ISG20, ING1, IGF1, IMPA1, CXCL8, IL6, IL2RA, IL1B, IL1A, CCN1, FASN, ETV5, ERN1, ALDH7A1, CACNA1F, C5AR1, C3, C1QBP, BSG, BMP4, BCL2, ARRB2, CANX, ARR3, ABCC6, APOE, APOB, AMFR, ADH7, ABO, CACNA1S, CCT, ERBB2, CYBB, EGF, E2F1, DUSP6, DNMT3A, CFD, ACE, CYLD, CTNNB1, CD44, MAPK14, CRYAB, CRK, CP, CORD1, COL2A1, CD74, RAB8A, MSR1, SH3BP4, CYTB, SYNJ1, FGF18, HSD17B6, DGKE, BRAP, SMC1A, USP11, AIMP2, PAX8, ZNF132, ZFP36, USH1E, TSC1, TP53, TNF, TMPRSS2, TSPAN7, SMC3, ARHGEF2, CRLF1, AKT3, TMED3, SIRT1, ARC, MAPRE3, ARPP21, AHSA1, PPIH, HEPH, SNAP29, PLEKHM1, PHYHIP, HDAC4, KNTC1, EIF2AK3, GRAP2, EFTUD2, TIMP2, TIMP1, DYNLT3, PKNOX1, HTRA1, PRNP, MAPK1, PRKCG, POLG, PMM2, PLAU, PIM1, RAC1, PGF, CFP, PDGFRB, NPTX2, NFE2L2, NAGLU, MYC, ALDH18A1, RASGRF1, ELOVL4, SFTPD, STATH, SOS1, SOD1, SNRPB, SNCA, SLC2A1, SGSH, SFRP5, RBP1, SEC14L1, CX3CL1, CCL2, S100A6, RPS6KB1, RPS6, RCVRN, H3P22

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Retinitis pigmentosa with onset of symptoms in the fifth or sixth decade is called senile retinitis pigmentosa. Bonneau et al. (1992) reported a family with 2 affected sisters whose parents were first cousins. Symptoms began in their fifties. The family originated from an area of France where consanguinity is not frequent. Grondahl (1987) described a Norwegian family in which 3 sibs had RP diagnosed at 58, 61, and 57 years of age; the parents came from the same Norwegian island and might have been consanguineous. In a survey of clinical aspects of RP in 93 families, Kaplan et al. (1990) found that autosomal recessive RP represented 21.5% of cases or 25.8% if isolated cases with consanguineous parents were considered. They found 2 main clinical profiles: one type was characterized by precocious onset (mean age, 7.5 years) and severe progression, whereas the second type occurred later (mean age, 17 years) and had a milder clinical course. RP with late onset (senile RP) may represent a third type of autosomal recessive retinitis pigmentosa.