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Lebersche kongenitale Amaurose

Die Lebersche kongenitale Amaurose ist eine erbliche Erkrankung, die allein und auch in verschiedenen Syndromen vorkommt. Sie besteht in einer Funktionsstörung der Retina und einer Degeneration der Aderhaut.

Symptome

Retinadystrophie
Lebersche kongenitale Amaurose ist die schwerste frühzeitig einsetzende Form der Retinadystrophie.

Gliederung

Ziliopathie
Acrocallosal Syndrom
Asphyxierende Thoraxdyplasie
COACH-Syndrom
Geistige Retardierung, stammbetonte Adipositas, Netzhautdystrophie und Mikropenis
Joubert-Syndrom
Kranioektodermale Dysplasie
Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
GUCY2D
Lebersche kongenitale Amaurose 02
RPE65
Lebersche kongenitale Amaurose 03
SPATA7
Lebersche kongenitale Amaurose 04
AIPL1
Lebersche kongenitale Amaurose 05
LCA5
Lebersche kongenitale Amaurose 06
RPGRIP1
Lebersche kongenitale Amaurose 07
CRX
Lebersche kongenitale Amaurose 08
CRB1
Lebersche kongenitale Amaurose 09
NMNAT1
Lebersche kongenitale Amaurose 10
CEP290
Lebersche kongenitale Amaurose 11
IMPDH1
Lebersche kongenitale Amaurose 12
RD3
Lebersche kongenitale Amaurose 13
RDH12
Lebersche kongenitale Amaurose 14
LRAT
Lebersche kongenitale Amaurose 15
TULP1
Lebersche kongenitale Amaurose 16
KCNJ13
Lebersche kongenitale Amaurose 17
GDF6
Lebersche kongenitale Amaurose 18
PRPH2
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Orofaciodigitales Syndrom
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
Retinitis pigmentosa
Senior-Loken-Syndrom
Simpson-Golabi-Behmel-Syndrom

Referenzen:

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None (1966) Congenital amaurosis of Leber.

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Moore AT et al. (1984) A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

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Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

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Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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44.

LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.

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45.

Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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46.

Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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49.

Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

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Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

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51.

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Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

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SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

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Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

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Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

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Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

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60.

Warady BA et al. (1994) Senior-Loken syndrome: revisited.

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Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

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Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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None (1969) Hereditary renal-retinal dysplasia.

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65.

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66.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

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67.

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68.

Orphanet article

Orphanet ID 65 external link
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OMIM.ORG article

Omim 204000 external link
70.

Wikipedia Artikel

Wikipedia DE (Lebersche_Kongenitale_Amaurose) external link
Update: 14. August 2020
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