Klinische FragestellungChorioideremie, Differentialdiagnose

CP6000_DH

illness_ClinicalComment_CP6000

• Alias: Choroidal sclerosis
• Alias: Tapetochroidal dystrophy, progressive
• Allelic: Bardet-Biedl syndrome 1, modifier of (ARL6)
• Allelic: Bardet-Biedl syndrome 2 (BBS2)
• Allelic: Bardet-Biedl syndrome 20 (IFT172)
• Allelic: Bardet-Biedl syndrome 21 (CFAP418)
• Allelic: Bardet-Biedl syndrome 3 (ARL6)
• Allelic: Bardet-Biedl syndrome 8 (TTC8)
• Allelic: COACH syndrome 2 (CC2D2A)
• Allelic: Congenital disorder of glycosylation, type 1bb (DHDDS)
• Allelic: Cranioectodermal dysplasia 3 (IFT143)
• Allelic: Deafness, AD 11 (MYO7A)
• Allelic: Deafness, AR 12 (CDH23)
• Allelic: Deafness, AR 18A (USH1C)
• Allelic: Deafness, AR 2 (MYO7A)
• Allelic: Deafness, AR 23 (PCDH15)
• Allelic: Deafness, AR 48 (CIB2)
• Allelic: Developmental delay + seizures +/- movement abnormalities (DHDDS)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: Joubert syndrome 10 (OFD1)
• Allelic: Joubert syndrome 35 (ARL3)
• Allelic: Joubert syndrome 9 (CC2D2A)
• Allelic: Leber congenital amaurosis 11 (IMPDH1)
• Allelic: Leber congenital amaurosis 15 (TULP1)
• Allelic: Leber congenital amaurosis 18 (PRPH2)
• Allelic: Leber congenital amaurosis 2 (RPE65)
• Allelic: Leber congenital amaurosis 3 (SPATA7)
• Allelic: Leber congenital amaurosis 8 (CRB1)
• Allelic: Meckel syndrome 6 (CC2D2A)
• Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (TYR)
• Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma 2 (BEST1)
• Allelic: Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Allelic: Night blindness, congenital stationary, AD 1 (RHO)
• Allelic: Night blindness, congenital stationary, AD 2 (PDE6B)
• Allelic: Nystagmus 6, congenital, XL (GPT143)
• Allelic: Oguchi disease-1 (SAG)
• Allelic: Orofaciodigital syndrome I (OFD1)
• Allelic: PERCHING syndrome (KLHL7)
• Allelic: Pituitary adenoma 5, multiple types (CDH23)
• Allelic: Short-rib thoracic dysplasia 10 +/- polydactyly (IFT172)
• Allelic: Short-rib thoracic dysplasia 18 with polydactyly (IFT143)
• Allelic: Short-rib thoracic dysplasia 9 +/- polydactyly (IFT140)
• Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Allelic: Skin/hair/eye pigmentation 3, blue/green eyes (TYR)
• Allelic: Skin/hair/eye pigmentation 3, light/dark/freckling skin (TYR)
• Albinism, oculocutaneous, type IA, IB (TYR)
• Bestrophinopathy, AR (BEST1)
• Bietti crystalline corneoretinal dystrophy (CYP4V2)
• Choroidal dystrophy, central areolar 2 (PRPH2)
• Choroideremia (CHM)
• Cone-rod dystrophy 10 (SEMA4A)
• Cone-rod dystrophy 11 (RAX2)
• Cone-rod dystrophy 12 (PROM1)
• Cone-rod dystrophy 15 (CDHR1)
• Cone-rod dystrophy 16 (CFAP418)
• Cone-rod dystrophy 3 (ABCA4)
• Cone-rod dystrophy, XL, 1 (RPGR)
• Enhanced S-cone syndrome (NR2E3)
• Exudative vitreoretinopathy 6 (ZNF408)
• Fundus flavimaculatus (ABCA4)
• Gyrate atrophy of choroid + retina +/- ornithinemia (OAT)
• Leber congenital amaurosis 13 (RDH12)
• Macular degeneration, XL atrophic 1 (RPGR)
• Macular degeneration, age-related, 2 (ABCA4)
• Macular degeneration, age-related, 6 (RAX2)
• Macular dystrophy, patterned, 1 (PRPH2)
• 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)
• Occult macular dystrophy (RP1L1)
• Ocular albinism, type I, Nettleship-Falls type (GPT143)
• Pigmented paravenous chorioretinal atrophy (CRB1)
• Retinal degeneration, AR, clumped pigment type (NRL)
• Retinal dystrophy, early-onset severe (ABCA4)
• Retinitis pigmentosa +/- situs inversus (ARL2BP)
• 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 30 (FSCN2)
• Retinitis pigmentosa 31 (TOPORS)
• Retinitis pigmentosa 32 (CLCC1)
• Retinitis pigmentosa 33 (SNRNP200)
• Retinitis pigmentosa 35 (SEMA4A)
• Retinitis pigmentosa 36 (PRCD)
• Retinitis pigmentosa 37 (NR2E3)
• Retinitis pigmentosa 38 (MERTK)
• Retinitis pigmentosa 39 (USH2A)
• Retinitis pigmentosa 4, AD/AR (RHO)
• Retinitis pigmentosa 40 (PDE6B)
• Retinitis pigmentosa 41 (PROM1)
• Retinitis pigmentosa 42 (KLHL7)
• Retinitis pigmentosa 43 (PDE6A)
• Retinitis pigmentosa 44 (RGR)
• Retinitis pigmentosa 45 (CNGB1)
• Retinitis pigmentosa 46 (IDH3B)
• Retinitis pigmentosa 47, AR (SAG)
• Retinitis pigmentosa 48 (GUCA1B)
• Retinitis pigmentosa 49 (CNGA1)
• Retinitis pigmentosa 50 (BEST1)
• Retinitis pigmentosa 51 (TTC8)
• Retinitis pigmentosa 54 (PCARE)
• Retinitis pigmentosa 55 (ARL6)
• Retinitis pigmentosa 56 (IMPG2)
• Retinitis pigmentosa 57 (PDE6G)
• Retinitis pigmentosa 58 (ZNF513)
• Retinitis pigmentosa 59 (DHDDS)
• Retinitis pigmentosa 60 (PRPF6)
• Retinitis pigmentosa 61 (CLRN1)
• Retinitis pigmentosa 62 (MAK)
• Retinitis pigmentosa 64 (CFAP418)
• 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 7, digenic form (ROM1)
• Retinitis pigmentosa 70 (PRPF4)
• Retinitis pigmentosa 71 (IFT172)
• Retinitis pigmentosa 72 (ZNF408)
• Retinitis pigmentosa 73 (HGSNAT)
• Retinitis pigmentosa 74 (BBS2)
• 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 81 (IFT143)
• Retinitis pigmentosa 83 (ARL3)
• Retinitis pigmentosa 84 (DHX38)
• Retinitis pigmentosa 85 (AHR)
• Retinitis pigmentosa 86 (KIAA1549)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa 88 (RP1L1)
• Retinitis pigmentosa 89 (KIF3B)
• Retinitis pigmentosa 9 (RP9)
• Retinitis pigmentosa 90 (IDH3A)
• Retinitis pigmentosa 91 (IMPG1)
• Retinitis pigmentosa 92 (HKDC1)
• Retinitis pigmentosa 93 (CC2D2A)
• Retinitis pigmentosa 94, variable age at onset, AR (SPATA7)
• Retinitis pigmentosa 95 (RAX2)
• Retinitis pigmentosa 96, AD (SAG)
• Retinitis pigmentosa, XL, sinorespiratory infections +/- deafness 1 (RPGR)
• Retinitis pigmentosa, concentric (BEST1)
• Retinitis punctata albescens (PRPH2)
• Retinitis punctata albescens (RHO)
• Stargardt disease 1 (ABCA4)
• Stargardt disease 4 (PROM1)
• 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 3A (CLRN1)
• Vitreoretinochoroidopathy (BEST1)
• Waardenburg syndrome/albinism, digenic (TYR)