ErkrankungLebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose

NGS +

Netzhautdystrophie mit Erblindung und Reaktionen auf elektrophysiologische Stimulation unterhalb der Schwelle, schwere Sehbehinderung im 1. Lebensjahr

• Alias: Amaurosis congenita of Leber, LCA
• Alias: Amaurosis, Leber congenital
• Alias: Congenital amaurosis of retinal origin
• Alias: Congenital retinal blindness
• Alias: Dysgenesis neuroepithelialis retinae
• Alias: Hereditary epithelial dysplasia of retina
• Alias: Hereditary retinal aplasia
• Alias: Heredoretinopathia congenitalis
• Alias: Leber abiotrophy
• Alias: Leber congenital tapetoretinal degeneration
• Alias: Retinal blindness, congenital
• Allelic: Bardet-Biedl syndrome 14 (CEP290)
• Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
• Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
• Allelic: Cone-rod dystrophy 13 (RPGRIP1)
• Allelic: Cranioectodermal dysplasia 4 (WDR19)
• Allelic: Joubert syndrome 5 (CEP290)
• Allelic: Klippel-Feil syndrome 1, AD (GDF6)
• Allelic: Macular dystrophy, patterned, 1 (PRPH2)
• Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
• Allelic: Meckel syndrome 4 (CEP290)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Nephronophthisis 13 (WDR19)
• Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
• Allelic: Senior-Loken syndrome 6 (CEP290)
• Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
• Allelic: Snowflake vitreoretinal degeneration (KCNJ13)
• Allelic: Spermatogenic failure 72 (WDR19)
• Cone-rod dystrophy (AIPL1)
• Cone-rod dystrophy 13 (RPGRIP1)
• Cone-rod dystrophy 6 (GUCY2D)
• Cone-rod retinal dystrophy 2 (CRX)
• Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
• Leber congenital amaurosis 1 (GUCY2D)
• Leber congenital amaurosis 10 (CEP290)
• Leber congenital amaurosis 11 (IMPDH1)
• Leber congenital amaurosis 12 (RD3)
• Leber congenital amaurosis 13 (RDH12)
• Leber congenital amaurosis 14 (LRAT)
• Leber congenital amaurosis 15 (TULP1)
• Leber congenital amaurosis 16 (KCNJ13)
• Leber congenital amaurosis 18 (PRPH2)
• Leber congenital amaurosis 19 (USP45)
• Leber congenital amaurosis 2 (RPE65)
• Leber congenital amaurosis 3 (SPATA7)
• Leber congenital amaurosis 4 (AIPL1)
• Leber congenital amaurosis 5 (LCA5)
• Leber congenital amaurosis 6 (RPGRIP1)
• Leber congenital amaurosis 7 (CRX)
• Leber congenital amaurosis 8 (CRB1)
• Leber congenital amaurosis 9 (NMNAT1)
• Leber's amaurosis
• Nephronophthisis 15 (CEP164)
• Pigmented paravenous chorioretinal atrophy (CRB1)
• Retinal dystrophy, early-onset severe (LRAT)
• Retinitis pigmentosa 10 (IMPDH1)
• Retinitis pigmentosa 12 (CRB1)
• Retinitis pigmentosa 14 (TULP1)
• Retinitis pigmentosa 20 (RPE65)
• Retinitis pigmentosa 7 + digenic form (PRPH2)
• Retinitis pigmentosa 7, digenic form (ROM1)
• Retinitis pigmentosa 87 with choroidal involvement (RPE65)
• Retinitis pigmentosa, juvenile (AIPL1)
• Retinitis pigmentosa, juvenile (LRAT)
• Retinitis pigmentosa, juvenile, AR (SPATA7)
• Retinitis punctata albescens (PRPH2)
• Senior-Loken syndrome 8 (WDR19)
• Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developm. dis., LCA (NMNAT1)