Klinische FragestellungZapfen-Stäbchen-Dystrophie/Makuladystrophie, Retinitis pigmentosa; Differentialdiagnose [gr. panel]

NGS +

Vererbte Retina-Dystrophien (RDs) sind eine Gruppe von Erkrankungen, die syndromisch oder nicht-syndromisch auftreten können. Die Sehbehinderung kann von schlechter peripherer oder nächtlicher Sicht bis zur völligen Erblindung reichen, wobei der Schweregrad gewöhnlich mit dem Alter zunimmt. RDs können je nach den betroffenen Photorezeptoren und den Manifestationen bzw. dem Grad der Atrophie innerhalb der Netzhaut in Gruppen eingeteilt werden. Zu den RD-Gruppen gehören Stäbchen-dominierte Erkrankungen, Zapfen-dominierte Erkrankungen und generalisierte Netzhautdegenerationen, an denen sowohl Stäbchen- als auch Zapfen-Photorezeptoren beteiligt sind. Unter den Stäbchen- und Stäbchen-Zapfen-Dystrophien lassen sich progressive degenerative Formen einschließlich Retinitis pigmentosa abgrenzen sowie stationäre Formen, die als kongenitale stationäre Nachtblindheit bezeichnet werden. RDs treten demnach aufgrund von Anomalien der zellulären Strukturen der Netzhaut sowie auch aufgrund von Defekten in der Phototransduktions-Kaskade und der Sehzyklus-Biochemie auf. RD kommt während der gesamten Lebensspanne von der Geburt bis nach dem 60. Lebensjahr vor. Es werden alle klassischen Erbmuster sowie selten digenische Vererbung beobachtet. Teilweise besteht inkomplette Penetranz und oft unterschiedliche klinische Ausprägung. Ein unauffälliger genetischer Befund bedeutet keinen sicheren Ausschluss der klinischen Verdachtsdiagnose, da die diagnostische Ausbeite >50-65% beträgt.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1417/

• Alias included: Retinitis pigmentosa
• Alias: Cone-rod dystrophy; CORD
• Alias: Macular dystrophy
• Allelic Senior-Loken syndrome 6 (CEP290)
• Allelic: Aland Island eye disease (CACNA1F)
• Allelic: Bardet-Biedl syndrome 21 (C8orf37)
• Allelic: Basal laminar drusen (CFH)
• Allelic: Bestrophinopathy, AR (BEST1)
• Allelic: Bradyopsia (RGS9)
• Allelic: Bradyopsia (RGS9BP)
• Allelic: Cerebellar dysfunction, impaired intellect. develop. + hypogonadotr. hypogonadism (PRDM13)
• Allelic: Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
• Allelic: Complement factor B deficiency (CFB)
• Allelic: Complement factor H deficiency (CFH)
• Allelic: Cutis laxa, AD 2 (FBLN5)
• Allelic: Cutis laxa, AR, type IA (FBLN5)
• Allelic: Dementia, familial British (ITM2B)
• Allelic: Dementia, familial Danish (ITM2B)
• Allelic: Fundus flavimaculatus (ABCA4)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 4 (CFB)
• Allelic: Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
• Allelic: Immunodeficiency 13 (UNC119)
• Allelic: Joubert syndrome 5 (CEP290)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Leber congenital amaurosis 18 (PRPH2)
• Allelic: Leber congenital amaurosis 4 (AIPL1)
• Allelic: Leber congenital amaurosis 6 (RPGRIP1)
• Allelic: Leber congenital amaurosis 7 (CRX)
• Allelic: Meckel syndrome 4 (CEP290)
• Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma (BEST1)
• Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
• Allelic: Night blindness, congenital stationary (incomplete), 2A, XL (CACNA1F)
• Allelic: PERCHING syndrome (KLHL7)
• Allelic: Retinitis punctata albescens (PRPH2)
• Allelic: Retinoschisis (RS1)
• Allelic: Spinocerebellar ataxia 34 (ELOVL4)
• Allelic: Spondylometaphyseal dysplasia, axial (CFAP410)
• Allelic: Vitreoretinochoroidopathy (BEST1)
• Achromatopsia 3 (CNGB3)
• Achromatopsia 4 (GNAT2)
• Achromatopsia 7 (ATF6)
• Achromatopsia, Cone + Cone-rod dystrophy [panelapp] (GNAT2)
• Achromatopsia, Cone + Cone-rod dystrophy [panelapp] (RDH5)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bothnia retinal dystrophy (RLBP1)
• Cone dystrophy 3 (GUCA1A)
• Cone dystrophy 4 (PDE6C)
• Cone dystrophy [MONDO:0000455] (IRX1)
• Cone-rod dystrophy (AIPL1)
• Cone-rod dystrophy (UNC119)
• Cone-rod dystrophy + hearing loss (CEP78)
• Cone-rod dystrophy 10 (SEMA4A)
• Cone-rod dystrophy 11 (RAX2)
• Cone-rod dystrophy 12 (PROM1)
• Cone-rod dystrophy 13 (RPGRIP1)
• Cone-rod dystrophy 14 (GUCA1A)
• Cone-rod dystrophy 15 (CDHR1)
• Cone-rod dystrophy 16 (C8orf37 syn. CFAP418)
• Cone-rod dystrophy 16 (C8orf37)
• Cone-rod dystrophy 18 (RAB28)
• Cone-rod dystrophy 19 (TTLL5)
• Cone-rod dystrophy 20 (POC1B)
• Cone-rod dystrophy 21 (DRAM2)
• Cone-rod dystrophy 22 (TLCD3B)
• Cone-rod dystrophy 3 (ABCA4)
• Cone-rod dystrophy 5 (PITPNM3)
• Cone-rod dystrophy 7 (RIMS1)
• Cone-rod dystrophy 9 (ADAM9)
• Cone-rod dystrophy [panelapp] (GNAT2)
• Cone-rod dystrophy and hearing loss 2 (CEP250)
• Cone-rod dystrophy, XL, 1 (RPGR)
• Cone-rod dystrophy, XL, 3 (CACNA1F)
• Cone-rod retinal dystrophy-2 (CRX)
• Cone-rod synaptic disorder syndrome, congenital nonprogressive (RIMS2)
• Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
• Developmental macular + foveal dystrophy [panelapp] (RS1)
• Developmental macular + foveal dystrophy; foveal hypoplasia in albinism [panelapp] (GPR143)
• Doyne honeycomb degeneration of retina (EFEMP1)
• Ectodermal dysplasia, ectrodactyly + macular dystrophy (CDH3)
• Fundus albipunctatus (RDH5)
• Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
• Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
• Jalili syndrome (CNNM4)
• Jalili syndrome [cone-rod dystrophy + amelogenesis imperfecta] (CNNM4)
• Joubert syndrome 35 (ARL3)
• Leber congenital amaurosis 13 (RDH12)
• Macular degeneration, XL atrophic (RPGR)
• Macular degeneration, age-related, 1 (HMCN1)
• Macular degeneration, age-related, 14, reduced risk of (CFB)
• Macular degeneration, age-related, 2 (ABCA4)
• Macular degeneration, age-related, 3 (FBLN5)
• Macular degeneration, age-related, 4 (CFH)
• Macular degeneration, age-related, 6 (RAX2)
• Macular degeneration, juvenile (CNGB3)
• Macular dystrophy with central cone involvement (MFSD8)
• Macular dystrophy, patterned, 1 (PRPH2)
• Macular dystrophy, patterned, 2 (CTNNA1)
• Macular dystrophy, retinal, 2 (PROM1)
• Macular dystrophy, vitelliform, 2 (BEST1)
• Macular dystrophy, vitelliform, 3 (PRPH2)
• Macular dystrophy, vitelliform, 4 (IMPG1)
• Macular dystrophy, vitelliform, 5 (IMPG2)
• Macular dystrophy/Degeneration/Stargardt disease [panelapp] (CNGB3)
• Macular dystrophy/Degeneration/Stargardt disease [panelapp] (RDH12)
• Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
• Microcephaly + chorioretinopathy, AR, 2 (PLK4)
• Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
• Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
• Newfoundland rod-cone dystrophy (RLBP1)
• North Carolina macular dystrophy [MONDO:0007630] (PRDM13)
• Nystagmus 6, congenital, XL (GPR143)
• Occult macular dystrophy (RP1L1)
• Ocular albinism, type I, Nettleship-Falls type (GPR143)
• Retinal cone dystrophy 3 (PDE6H)
• Retinal cone dystrophy 3B (KCNV2)
• Retinal cone dystrophy 4 (CACNA2D4)
• Retinal degeneration, AR, clumped pigment type (NRL)
• Retinal degeneration, late-onset, AD (C1QTNF5)
• Retinal dystrophy with inner retinal dysfunction + ganglion cell abnormalities (ITM2B)
• Retinal dystrophy with macular staphyloma (C21orf2)
• Retinal dystrophy with macular staphyloma (CFAP410)
• Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
• Retinal dystrophy, early-onset severe (ABCA4)
• Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
• Retinitis pigmentosa 1 (RP1)
• Retinitis pigmentosa 10 (IMPDH1)
• Retinitis pigmentosa 11 (PRPF31)
• Retinitis pigmentosa 12 (CRB1)
• Retinitis pigmentosa 13 (PRPF8)
• Retinitis pigmentosa 14 (TULP1)
• Retinitis pigmentosa 18 (PRPF3)
• Retinitis pigmentosa 19 (ABCA4)
• Retinitis pigmentosa 2 (RP2)
• Retinitis pigmentosa 20 (RPE65)
• Retinitis pigmentosa 23 (OFD1)
• Retinitis pigmentosa 25 (EYS)
• Retinitis pigmentosa 26 (CERKL)
• Retinitis pigmentosa 27 (NRL)
• Retinitis pigmentosa 28 (FAM161A)
• Retinitis pigmentosa 3 (RPGR)
• Retinitis pigmentosa 31 (TOPORS)
• Retinitis pigmentosa 33 (SNRNP200)
• Retinitis pigmentosa 35 (SEMA4A)
• Retinitis pigmentosa 36 (PRCD)
• Retinitis pigmentosa 37 (NR2E3)
• Retinitis pigmentosa 38 (MERTK)
• Retinitis pigmentosa 4, AD/AR (RHO)
• Retinitis pigmentosa 40 (PDE6B)
• Retinitis pigmentosa 41 (PROM1)
• Retinitis pigmentosa 42 (KLHL7)
• Retinitis pigmentosa 43 (PDE6A)
• Retinitis pigmentosa 45 (CNGB1)
• Retinitis pigmentosa 46 (IDH3B)
• Retinitis pigmentosa 47 (SAG)
• Retinitis pigmentosa 48 (GUCA1B)
• Retinitis pigmentosa 49 (CNGA1)
• Retinitis pigmentosa 50 (BEST1)
• Retinitis pigmentosa 51 (TTC8)
• Retinitis pigmentosa 54 (C2orf71)
• Retinitis pigmentosa 55 (ARL6)
• Retinitis pigmentosa 56 (IMPG2)
• Retinitis pigmentosa 57 (PDE6G)
• Retinitis pigmentosa 59 (DHDDS)
• Retinitis pigmentosa 60 (PRPF6)
• Retinitis pigmentosa 61 (CLRN1)
• Retinitis pigmentosa 62 (MAK)
• Retinitis pigmentosa 64 (C8orf37 syn. CFAP418)
• Retinitis pigmentosa 64 (C8orf37)
• Retinitis pigmentosa 65 (CDHR1)
• Retinitis pigmentosa 66 (RBP3)
• Retinitis pigmentosa 69 (KIZ)
• Retinitis pigmentosa 7 + digenic form (PRPH2)
• Retinitis pigmentosa 70 (PRPF4)
• Retinitis pigmentosa 73 (HGSNAT)
• Retinitis pigmentosa 75 (AGBL5)
• Retinitis pigmentosa 77 (REEP6)
• Retinitis pigmentosa 78 (ARHGEF18)
• Retinitis pigmentosa 80 (IFT140)
• Retinitis pigmentosa 83 (ARL3)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa 88 (RP1L1)
• Retinitis pigmentosa 9 (RP9)
• Retinitis pigmentosa 90 (IDH3A)
• Retinitis pigmentosa 91 (IMPG1)
• Retinitis pigmentosa [panelapp] (RDH12)
• Retinitis pigmentosa with/-out situs inversus (ARL2BP)
• Retinitis pigmentosa with/-out skeletal anomalies (CWC27)
• Retinitis pigmentosa, XL + sinorespiratory infections, with/-out deafness (RPGR)
• Retinitis pigmentosa, concentric (BEST1)
• Retinitis pigmentosa, juvenile (AIPL1)
• Retinitis pigmentosa, juvenile, AR (SPATA7)
• Sorsby fundus dystrophy (TIMP3)
• Spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A)
• Stargardt disease 1 (ABCA4)
• Stargardt disease 3 (ELOVL4)
• Stargardt disease 4 (PROM1)