Klinische FragestellungRetinitis pigmentosa, syndromal

NGS +

Retinitis Pigmentosa (RP) ist die häufigste Form einer erblichen Netzhautdystrophie, die durch eine Photorezeptoren-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 je 100 verschiedene, autosomal rezessiv und dominant vererbte isolierte RP-Formen sind derzeit bekannt. RP tritt weniger häufig als Teil von Syndromen auf, die andere Organe und Gewebe im Körper betreffen. Die häufigste Form der syndromischen Retinitis pigmentosa ist das Usher-Syndrom, die Kombination von Seh- und Hörverlust (mit Gleichgewichtstörungen), die meist früh beginnt. RP ist auch ein Merkmal mehrerer anderer genetischer Syndrome, wie z.B. des Bardet-Biedl Syndroms, des Morbus Refsum und des Stickler Syndroms. 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, syndromal
• Allelic: Aphasia, primary progressive (GRN)
• Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Allelic: Bile acid synthesis defect, congenital, 4 (AMACR)
• Allelic: Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Allelic: Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Immunodeficiency 33 (IKBKG)
• Allelic: Metabolic syndrome, protection against (MTTP)
• Allelic: Nephronophthisis 1, juvenile (NPHP1)
• Allelic: Optic atrophy 9 (ACO2)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Allelic: Sideroblastic anemia, B-cell immunodeficiency, periodic fevers, development delay (TRNT1)
• Allelic: Spermatogenic failure 58 (IFT74)
• Allelic: Type 2 diabetes mellitus, susceptibility to (NEUROD1)
• Abetalipoproteinemia (MTTP)
• Alpha-methylacyl-CoA racemase deficiency (AMACR)
• Alstrom syndrome (ALMS1)
• Arts syndrome (PRPS1)
• Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
• Autoimmune polyendocrinopathy syndrome, type I, +/- reversible metaphyseal dysplasia (AIRE)
• Bardet-Biedl syndrome 1 (BBS1)
• Bardet-Biedl syndrome 10 (BBS10)
• Bardet-Biedl syndrome 11 (TRIM32)
• Bardet-Biedl syndrome 12 (BBS12)
• 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 18 (BBIP1)
• Bardet-Biedl syndrome 19 (IFT27)
• Bardet-Biedl syndrome 2 (BBS2)
• Bardet-Biedl syndrome 21 (C8orf37)
• Bardet-Biedl syndrome 22 (IFT74)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 4 (BBS4)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 7 (BBS7)
• Bardet-Biedl syndrome 8 (TTC8)
• Bardet-Biedl syndrome 9 (BBS9)
• Boucher-Neuhauser syndrome (PNPLA6)
• Bradyopsia (RGS9)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• 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, 4A (Kufs type), AR (CLN6)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (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)
• Cone-rod dystrophy and hearing loss (CEP78)
• Cone-rod dystrophy and hearing loss 2 (CEP250)
• Congenital disorder of glycosylation, type 1bb (DHDDS)
• Donnai-Barrow syndrome (LRP2)
• Ectodermal dysplasia, ectrodactyly + macular dystrophy (CDH3)
• Enhanced S-cone syndrome (NR2E3)
• Foveal hypoplasia 2, with/-out optic nerve misrouting and/or anterior segment dysgenesis (SLC38A8)
• Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
• HARP syndrome (PANK2)
• Hardikar syndrome (MED12)
• Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
• Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
• Incontinentia pigmenti (IKBKG)
• Infantile cerebellar-retinal degeneration (ACO2)
• Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
• Jalili syndrome (CNNM4)
• Joubert syndrome 1 (INPP5E)
• Joubert syndrome 10 (OFD1)
• 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 40 (IFT74)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 8 (ARL13B)
• Joubert syndrome 9 (CC2D2A)
• Knobloch syndrome, type 1 (COL18A1)
• Laurence-Moon syndrome (PNPLA6)
• Linear skin defects with multiple congenital anomalies 1 (HCCS)
• Lujan-Fryns syndrome (MED12)
• Macular dystrophy with central cone involvement (MFSD8)
• Maturity-onset diabetes of the young 6 (NEUROD1)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 2 (TMEM216)
• Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
• Microcephaly + chorioretinopathy, AR, 2 (PLK4)
• Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
• Microcephaly and chorioretinopathy, AR, 1 (TUBGCP6)
• Microcephaly with or without chorioretinopathy, lymphedema or mental retardation (KIF11)
• Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (KIF11)
• Microcornea, myopic chorioretinal atrophy, telecanthus (ADAMTS18)
• Morbid obesity and spermatogenic failure (CEP19)
• Mucolipidosis III gamma (GNPTG)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Myopathy, mitochondrial, and ataxia (MSTO1)
• Nephronophthisis 13 (WDR19)
• Nephronophthisis 14 (ZNF423)
• Nephronophthisis 15 (CEP164)
• Nephronophthisis 2, infantile (INVS)
• Nephronophthisis 3 (NPHP3)
• Nephronophthisis 4 (NPHP4)
• Norrie disease (NDP)
• Oculoauricular syndrome (HMX1)
• Ohdo syndrome, XL (MED12)
• Oliver-McFarlane syndrome (PNPLA6)
• Opitz-Kaveggia syndrome (MED12)
• PERCHING syndrome (KLHL7)
• 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)
• Persistent hyperplastic primary vitreous, AR (ATOH7)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Poretti-Boltshauser syndrome (LAMA1)
• Pseudoxanthoma elasticum (ABCC6)
• ROSAH syndrome (ALPK1)
• Refsum disease (PHYH)
• Retinal dystrophy + obesity (TUB)
• Retinal dystrophy with leukodystrophy (ABCD5)
• Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
• Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
• Retinal dystrophy, juvenile cataracts + short stature syndrome (RDH11)
• Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
• Retinitis pigmentosa 4, AD/AR (RHO)
• Retinitis pigmentosa 7 + digenic form (PRPH2)
• Retinitis pigmentosa 76 (POMGNT1)
• Retinitis pigmentosa 80 (IFT140)
• Retinitis pigmentosa 83 (ARL3)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa with/-out situs inversus (ARL2BP)
• Retinitis pigmentosa with/-out skeletal anomalies (CWC27)
• Retinitis pigmentosa, XL + sinorespiratory infections, with/-out deafness (RPGR)
• 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 9 with/-out polydactyly [+ retinal pigment dystrophy] (IFT140)
• Sjogren-Larsson syndrome (ALDH3A2)
• Spastic paraplegia 15, AR (ZFYVE26)
• Spastic paraplegia 39, AR (PNPLA6)
• Spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A)
• Stickler syndrome, type IV (COL9A1)
• Usher syndrome, type 1B (MYO7A)
• Usher syndrome, type 1C (USH1C)
• Usher syndrome, type 1D/F digenic (PCDH15)
• Usher syndrome, type 1F (PCDH15)
• Usher syndrome, type 1G (USH1G)
• 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 IJ (CIB2)
• Wagner syndrome 1 (VCAN)