IllnessLebersche kongenitale Amaurosis/EOSRD, Differentialdiagnose

NGS +

[Sanger]

Leber's congenital amaurosis (LCA) primarily affects the retina and causes severe visual impairment at birth or shortly thereafter, which may even worsen over time. In addition, photophobia, nystagmus and hyperopia are observed, and the pupils do not respond normally to light. Franceschetti's oculo-digital sign is characteristic: poking, pressing, rubbing the eyes with fingers or knuckles. In very rare cases, developmental delays and mental retardation also occur. There are more than two dozen types of LCA as distinguished by their genetic cause, patterns of vision loss and associated eye abnormalities. Variants in the CEP290, CRB1, GUCY2D, RDH12 and RPE65 genes represent the most common causes of LCA. It is usually inherited in an autosomal recessive manner, but it is autosomal dominant with variants in the CRX or IMPDH1 genes. Because the DNA diagnostic yield in suspected cases is barely >70%, a negative molecular genetic test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK531510/

• Achromatopsia 2 (CNGA3)
• 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: Leber's amaurosis
• 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)