IllnessLebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose

NGS +

Leber congenital amaurosis/abiotrophy is an eye disease that primarily affects the retina and leads to severe visual impairment as early as in infancy. The visual impairment then usually remains stable, although it may worsen very slowly over time. Leber abiotrophy is also associated with other visual problems, including photophobia, nystagmus, extreme hyperopia and kertoconus. The pupils do not respond normally to light. A specific behavior of the young patients called the Franceschetti's oculo-digital sign is characteristic: pushing around, poking and rubbing the eyes with the fingers. In rare cases, developmental delays and mental retardation have been noted in people with Leber abiotrophy traits. About 20 different types have been described, as distinguished by their genetic causes, patterns of vision loss and associated eye changes. Mutations in any of the genes associated with Leber abiotrophy disrupt retinal development and function, leading to early vision loss. Mutations in the CEP290, CRB1, GUCY2D and RDH12 genes are the most common causes of the disease, although this depends on the population. The disease is usually inherited in an autosomal recessive manner or, less commonly, in an autosomal dominant manner. In <30% of all patients with liver abiotrophy, the cause of the disease remains unknown. Thus a negative DNA test result does not exclude the clinical diagnosis.

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

• 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)
• Achromatopsia 2 (CNGA3)
• 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)