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.
Retinadystrophie | |
Lebersche kongenitale Amaurose ist die schwerste frühzeitig einsetzende Form der Retinadystrophie. |
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Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. |
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Rahn EK et al. (1968) Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family. |
3. |
Ek J et al. (1986) Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. |
4. |
Schroeder R et al. (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. |
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6. |
Russell-Eggitt IM et al. (1989) Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. |
7. |
Wagner RS et al. (1985) High hyperopia in Leber's congenital amaurosis. |
8. |
Riess O et al. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. |
9. |
Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. |
10. |
None (1968) Leber's congenital tapetoretinal degeneration. |
11. |
Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. |
12. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. |
13. |
Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation. |
14. |
Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney. |
15. |
Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8. |
16. |
None (1924) The Inheritance of a Retinal Abnormality in White Mice. |
17. |
Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. |
18. |
Cremers FP et al. (2002) Molecular genetics of Leber congenital amaurosis. |
19. |
Wang X et al. (2011) Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. |
20. |
Wiszniewski W et al. (2011) Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. |
21. |
Estrada-Cuzcano A et al. (2011) IQCB1 mutations in patients with leber congenital amaurosis. |
22. |
Sorsby A et al. (1960) Retinal Aplasia as a Clinical Entity. |
23. |
Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. |
24. |
None (1966) Congenital amaurosis of Leber. |
25. |
WAARDENBURG PJ et al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS. |
26. |
Milam AH et al. (2003) Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. |
27. |
Camuzat A et al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. |
28. |
Perrault I et al. (1999) Leber congenital amaurosis. |
29. |
Schuil J et al. (1998) Mental retardation in amaurosis congenita of Leber. |
30. |
Yano S et al. (1998) Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies. |
31. |
Ehara H et al. (1997) New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. |
32. |
Lambert SR et al. (1993) Concordance and recessive inheritance of Leber congenital amaurosis. |
33. |
Nickel B et al. (1982) Leber's congenital amaurosis. Is mental retardation a frequent associated defect? |
34. |
Moore AT et al. (1984) A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. |
35. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. |
36. |
Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. |
37. |
Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. |
38. |
Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex. |
39. |
Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis]. |
40. |
Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis. |
41. |
Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. |
42. |
Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. |
43. |
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. |
44. |
LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness. |
45. |
Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. |
48. |
Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. |
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. |
50. |
Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. |
51. |
Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p. |
52. |
Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. |
53. |
SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. |
54. |
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. |
55. |
Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. |
56. |
Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. |
57. |
Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. |
58. |
Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network. |
59. |
Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. |
60. |
Warady BA et al. (1994) Senior-Loken syndrome: revisited. |
61. |
Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. |
62. |
Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome. |
63. |
None (1969) Hereditary renal-retinal dysplasia. |
64. |
Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study]. |
65. |
Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)]. |
66. |
None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions. |
67. |
Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. |
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Orphanet article Orphanet ID 65 |
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OMIM.ORG article Omim 204000 |
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Wikipedia Artikel Wikipedia DE (Lebersche_Kongenitale_Amaurose) |