Klinische FragestellungRetinitis pigmentosa/Retina-Erkrankungen, autosomal rezessiv; Differentialdiagnose

NGS +

[[[Sanger]]]

Retinitis Pigmentosa (RP) ist die häufigste Form einer erblichen Netzhautdystrophie, die durch eine Photorezeptor-Degeneration gekennzeichnet ist. RP manifestiert sich mit anfänglicher Nachtblindheit und Tunnelblick, gefolgt von einem sekundären Verlust von Zapfen-Photorezeptoren, der zur verminderten Sehschärfe und Makula-Degeneration führt. Der Beginn und das Fortschreiten der RP sowie der Schweregrad der Symptome können zwischen den Patienten deutlich variieren, selbst innerhalb derselben Familie. In mehr als die Hälfte aller Patienten wird autosomal-rezessiv vererbte RP identifiziert. Beinahe 100 verschiedene, autosomal rezessive vererbte RP-Formen sind derzeit bekannt. In bis >80% der rezessiv vererbten RP-Formen kann (je nach Population und klinischer Vorselektion) die genetische Prädisposition identifiziert werden. Es besteht häufig unterschiedliche klinische Ausprägung. Ein unauffälliger genetischer Befund bedeutet keinen Ausschluss der klinischen Verdachtsdiagnose.

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

• Alias: Retinopathia pigmentosa
• Allelic: Achromatopsia-4 (GNAT2)
• Allelic: Bestrophinopathy, AR (BEST1)
• Allelic: Bile acid synthesis defect, congenital, 4 (AMACR)
• Allelic: Boucher-Neuhauser syndrome (PNPLA6)
• Allelic: Bradyopsia (RGS9)
• Allelic: Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
• Allelic: Eye Disorders [panelapp] (RDH12)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Hyper-IgD syndrome (MVK)
• Allelic: Laurence-Moon syndrome (PNPLA6)
• Allelic: Leber congenital amaurosis 13 (RDH12)
• Allelic: Leber congenital amaurosis 15 (TULP1)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Leber congenital amaurosis 8 (CRB1)
• Allelic: Macular Dystrophy/Degeneration/Stargardt Disease [panelapp] (RDH12)
• Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
• Allelic: Maturity-onset diabetes of the young (NEUROD1)
• Allelic: Meckel syndrome 2 (TMEM216)
• Allelic: Microcephalic osteodysplastic primordial dwarfism, type I (SEMA4A)
• Allelic: Microcornea, myopic chorioretinal atrophy + telecanthus (ADAMTS18)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, congenital with mental retard., type B, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Neuropathy, hereditary motor and sensory, Russe type (HK1)
• Allelic: PERCHING syndrome (KLHL7)
• Allelic: Porokeratosis 3, multiple types (MVK)
• Allelic: Retinitis pigmentosa 83 (ARL3)
• Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
• Allelic: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Allelic: Spastic paraplegia 39, AR (PNPLA6)
• Allelic: Spastic paraplegia 55, (MTRFR)
• Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
• Allelic: Type 2 diabetes mellitus, susceptibility to (NEUROD1)
• Abetalipoproteinemia (MTTP)
• Achromatopsia 6 (PDE6H)
• Achromatopsia, Cone + cone-rod dystrophy [panelapp] (RGS9)
• Achromatopsia, cone + cone-rod dystrophy [panelapp] (GNAT2)
• Alpha-methylacyl-CoA racemase deficiency (AMACR)
• Alstrom syndrome (ALMS1)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Bardet-Biedl syndrome 11 (TRIM32)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 15 (WDPCP)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 17 (LZTFL1)
• Bardet-Biedl syndrome 19 (IFT27)
• Bardet-Biedl syndrome 20 (IFT172)
• Bardet-Biedl syndrome 20 (IFT74)
• Bardet-Biedl syndrome 21 (CFAP418 syn. C8orf37)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 8 (TTC8)
• Bardet-Biedl syndromes 1, 2, 4, 5, 7, 9, 10, 12 (BBS1-BBS12)
• Bietti crystalline corneoretinal dystrophy (CYP4V2)
• Bothnia retinal dystrophy (RLBP1)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 11, (GRN)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 6A (CLN6)
• Ceroid lipofuscinosis, neuronal, 6A (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Cohen syndrome (VPS13B)
• Combined oxidative phosphorylation deficiency 7 (MTRFR)
• Cone dystrophy 4 (PDE6C)
• Cone-rod dystrophy (AIPL1)
• Cone-rod dystrophy + hearing loss (CEP78)
• Cone-rod dystrophy + hearing loss 2 (CEP250)
• Cone-rod dystrophy 12 (PROM1)
• Cone-rod dystrophy 13 (RPGRIP1)
• Cone-rod dystrophy 15 (CDHR1)
• Cone-rod dystrophy 16 (CFAP418 syn. 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 syn. FAM57B)
• Cone-rod dystrophy 6 (GUCY2D)
• Cone-rod dystrophy 9 (ADAM9)
• Cone-rod dystrophy [MONDO:0015993] (TLCD3B syn. FAM57B)
• Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
• Donnai-Barrow syndrome (LRP2)
• Genetic retinal degeneration conditions [panelapp] (ADAMTS18)
• Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
• HARP syndrome (PANK2)
• Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
• Infantile cerebellar-retinal degeneration (ACO2)
• Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
• Jalili syndrome (CNNM4)
• Joubert syndrome 1 (INPP5E)
• Joubert syndrome 14 (TMEM237)
• Joubert syndrome 19 (ZNF423)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 35 (ARL3)
• Joubert syndrome 39 (TMEM218)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 9 (CC2D2A)
• Lowry-Wood syndrome (SEMA4A)
• Macular dystrophy with central cone involvement (MFSD8)
• McKusick-Kaufman syndrome (MKKS)
• Meckel syndrome 11 (TMEM231)
• Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
• Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
• Methylmalonic aciduria + homocystinuria, cblC type, digenic (MMACHC)
• Mevalonic aciduria (MVK)
• Mitochondrial DNA depletion syndrome 20, MNGIE type (LIG3)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
• Nephronophthisis 1, juvenile (NPHP1)
• Nephronophthisis 13 (WDR19)
• Nephronophthisis 14 (ZNF423)
• Nephronophthisis 15 (CEP164)
• Nephronophthisis 3 (NPHP3)
• Nephronophthisis 4 (NPHP4)
• Neuronal ceroid lipofuscinosis 1 [MONDO:0013866] (GRN)
• Newfoundland rod-cone dystrophy (RLBP1)
• Oculoauricular syndrome (HMX1)
• Oliver-McFarlane syndrome (PNPLA6)
• Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
• Peroxisome biogenesis disorder 4A (Zellweger (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
• Peroxisome biogenesis disorder 9B (PEX7)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Refsum disease (PHYH)
• Retinal cone dystrophy 3 (PDE6H)
• Retinal cone dystrophy 3B (KCNV2)
• Retinal cone dystrophy 4 (CACNA2D4)
• Retinal degeneration, AR, clumped pigment type (NRL)
• Retinal disorders [panelapp "eye disorders"] (CLN6)
• Retinal disorders [panelapp "eye disorders"] (CLN8)
• Retinal dystrophy + obesity (TUB)
• Retinal dystrophy with macular staphyloma (C21orf2)
• Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
• Retinal dystrophy, early-onset severe (LRAT)
• Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
• Retinal dystrophy, juvenile cataracts + short stature syndrome (RDH11)
• Retinitis Pigmentosa, AR [panelapp] (RDH12)
• Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
• Retinitis pigmentosa 1 (RPI)
• Retinitis pigmentosa 11 (PRPF31)
• Retinitis pigmentosa 12 (CRB1)
• Retinitis pigmentosa 14 (TULP1)
• Retinitis pigmentosa 19 (ABCA4)
• Retinitis pigmentosa 20 (RPE65)
• Retinitis pigmentosa 25 (EYS)
• Retinitis pigmentosa 26 (CERKL)
• Retinitis pigmentosa 27 (NRL)
• Retinitis pigmentosa 28 (FAM161A)
• 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 49 (CNGA1)
• Retinitis pigmentosa 50 (BEST1)
• Retinitis pigmentosa 51 (TTC8)
• Retinitis pigmentosa 55 (ARL6)
• Retinitis pigmentosa 56 (IMPG2)
• Retinitis pigmentosa 57 (PDE6G)
• Retinitis pigmentosa 58 (ZNF513)
• Retinitis pigmentosa 59 (DHDDS)
• Retinitis pigmentosa 61 (CLRN1)
• Retinitis pigmentosa 62 (MAK)
• Retinitis pigmentosa 64 (CFAP418 syn. C8orf37)
• Retinitis pigmentosa 65 (CDHR1)
• Retinitis pigmentosa 66 (RBP3)
• Retinitis pigmentosa 67 (NEK2)
• Retinitis pigmentosa 68 (SLC7A14)
• Retinitis pigmentosa 69 (KIZ)
• Retinitis pigmentosa 7 + digenic form (PRPH2)
• Retinitis pigmentosa 71 (IFT172)
• Retinitis pigmentosa 72 (ZNF408)
• Retinitis pigmentosa 73 (HGSNAT)
• Retinitis pigmentosa 75 (AGBL5)
• Retinitis pigmentosa 76 (POMGNT1)
• Retinitis pigmentosa 77 (REEP6)
• Retinitis pigmentosa 78 (ARHGEF18)
• Retinitis pigmentosa 79 (HK1)
• Retinitis pigmentosa 80 (IFT140)
• Retinitis pigmentosa 84 (DHX38)
• Retinitis pigmentosa 85 (AHR)
• Retinitis pigmentosa 86 (KIAA1549)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa 90 (IDH3A)
• Retinitis pigmentosa ["eye disoders" panelapp] (CTSD)
• Retinitis pigmentosa [panelapp] (CLN3)
• Retinitis pigmentosa [panelapp] (NEUROD1)
• Retinitis pigmentosa [panelapp] (RDH12)
• Retinitis pigmentosa [panelapp] (SLC37A3)
• Retinitis pigmentosa with/-out situs inversus (ARL2BP)
• Retinitis pigmentosa with/-out skeletal anomalies
• Retinitis pigmentosa, concentric (BEST1)
• Retinitis pigmentosa, juvenile (AIPL1, LRAT)
• Retinitis pigmentosa, juvenile, AR (SPATA7)
• Retinitis punctata albescens (PRPH2, RHO, RLBP1)
• Retinopathy [panelapp] (NEUROD1)
• Rickets due to defect in vitamin D 25-hydroxylation deficiency (CYP2R1)
• Roifman syndrome (SEMA4A)
• Senior-Loken syndrome 1 (NPHP1)
• Senior-Loken syndrome 4 (NPHP4)
• Senior-Loken syndrome 5 (IQCB1)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Senior-Loken syndrome 8 (WDR19)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
• Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, developm. delay (TRNT1)
• Spastic paraplegia 15, AR [+retinal degeneration] (ZFYVE26)
• Spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A)
• Usher syndrome, type 1B (MYO7A)
• Usher syndrome, type 1C (USH1C)
• Usher syndrome, type 1D (CDH23)
• Usher syndrome, type 1D/F digenic (CDH23)
• Usher syndrome, type 1D/F digenic (PCDH15)
• Usher syndrome, type 1F (PCDH15)
• Usher syndrome, type 1G (USH1G)
• Usher syndrome, type 1J (CIB2)
• Usher syndrome, type 2A (USH2A)
• Usher syndrome, type 2C (ADGRV1)
• Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
• Usher syndrome, type 2D (WHRN)
• Usher syndrome, type 3A (CLRN1)
• Usher syndrome, type 3B (HARS)
• Usher syndrome, type IV (ARSG)