Leber's Congenital Amaurosis (LCA)

Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.

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96 Published articles on Leber's Congenital Amaurosis (LCA)
1. Le Carré J, Schorderet DF, Cottet S. Altered expression of - β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium - (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital - amaurosis. Mol Vis. 2011;17.1287-97. Epub 2011 May 7.
2. Yang HK, Hwang JM, Park SS, Yu YS. Brain imaging studies in Leber's congenital - amaurosis. new radiologic findings associated with the complex trait. Korean J - Ophthalmol. 2010 Dec;24(6).360-3. Epub 2010 Nov 23.
3. Ugur Iseri SA, Durlu YK, Tolun A. A novel recessive GUCY2D mutation causing - cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 - Oct;18(10).1121-6. Epub 2010 Jun 2.
4. Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. A null mutation  - in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis. 2010 Feb - 10;16.207-12.
5. Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, - Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Visual - acuity in patients with Leber's congenital amaurosis and early childhood-onset - retinitis pigmentosa. Ophthalmology. 2010 Jun;117(6).1190-8. Epub 2010 Jan 15. -
6. Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi  - S, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, Shindler KS, Ying - GS, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio  - A. Gene therapy for Leber's congenital amaurosis is safe and effective through - 1.5 years after vector administration. Mol Ther. 2010 Mar;18(3).643-50. Epub 2009 - Dec 1.
7. Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, - Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan - JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, - Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell - JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy - for Leber's congenital amaurosis. a phase 1 dose-escalation trial. Lancet. 2009 - Nov 7;374(9701).1597-605. Epub 2009 Oct 23. Erratum in. Lancet. 2010 Jan - 2;375(9708).30.
8. Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, - Windsor EA, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG. Vision 1 year - after gene therapy for Leber's congenital amaurosis. N Engl J Med. 2009 Aug - 13;361(7).725-7.
9. Hamann S, Schorderet DF, Cottet S. Bax-induced apoptosis in Leber's congenital - amaurosis. a dual role in rod and cone degeneration. PLoS One. 2009 Aug - 12;4(8).e6616.
10. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, - Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, - Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR. Effect of gene - therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008 - May 22;358(21).2231-9. Epub 2008 Apr 27.
11. Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, - Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle - B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, - Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW,  - Auricchio A, High KA, Bennett J. Safety and efficacy of gene transfer for Leber's - congenital amaurosis. N Engl J Med. 2008 May 22;358(21).2240-8. Epub 2008 Apr 27. -
12. Cottet S, Schorderet DF. Triggering of Bcl-2-related pathway is associated - with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital - amaurosis. Apoptosis. 2008 Mar;13(3).329-42.
13. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, - Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, - Rinaldi E, Auricchio A, Banfi S. Clinical and molecular genetics of Leber's - congenital amaurosis. a multicenter study of Italian patients. Invest Ophthalmol  - Vis Sci. 2007 Sep;48(9).4284-90.
14. Fazzi E, Rossi M, Signorini S, Rossi G, Bianchi PE, Lanzi G. Leber's - congenital amaurosis. is there an autistic component? Dev Med Child Neurol. 2007  - Jul;49(7).503-7.
15. Keller B, Adamski J. RDH12, a retinol dehydrogenase causing Leber's - congenital amaurosis, is also involved in steroid metabolism. J Steroid Biochem - Mol Biol. 2007 May;104(3-5).190-4. Epub 2007 Mar 23.
16. Vorum H, Østergaard M, Rice GE, Honoré B, Bek T. Identification of - differentially regulated proteins in a patient with Leber's Congenital - Amaurosis--a proteomic study. Proteome Sci. 2007 Feb 27;5.5.
17. Gandra M, Sundaramurthy S, Kumaramanickavel G. Gene symbol. RPE65. Disease. - Leber's congenital amaurosis. Accession #Hm0548. Hum Genet. 2006 Feb;118(6).780.  -
18. Cottet S, Michaut L, Boisset G, Schlecht U, Gehring W, Schorderet DF. - Biological characterization of gene response in Rpe65-/- mouse model of Leber's - congenital amaurosis during progression of the disease. FASEB J. 2006 - Oct;20(12).2036-49.
19. Chen Y, Moiseyev G, Takahashi Y, Ma JX. Impacts of two point mutations of - RPE65 from Leber's congenital amaurosis on the stability, subcellular - localization and isomerohydrolase activity of RPE65. FEBS Lett. 2006 Jul - 24;580(17).4200-4. Epub 2006 Jul 5.
20. Apushkin MA, Fishman GA. Attainment of educational levels in patients with - Leber's congenital amaurosis. Ophthalmology. 2006 Mar;113(3).481-2.
21. Lu X, Guruju M, Oswald J, Ferreira PA. Limited proteolysis differentially - modulates the stability and subcellular localization of domains of RPGRIP1 that - are distinctly affected by mutations in Leber's congenital amaurosis. Hum Mol - Genet. 2005 May 15;14(10).1327-40. Epub 2005 Mar 30.
22. Narfström K, Bragadóttir R, Redmond TM, Rakoczy PE, van Veen T, Bruun A. - Functional and structural evaluation after AAV.RPE65 gene transfer in the canine  - model of Leber's congenital amaurosis. Adv Exp Med Biol. 2003;533.423-30.
23. Porto FB, Perrault I, Hicks D, Rozet JM, Hanoteau N, Hanein S, Kaplan J, - Sahel JA. Prenatal human ocular degeneration occurs in Leber's Congenital - Amaurosis (LCA1 and 2). Adv Exp Med Biol. 2003;533.59-68.
24. Pignatelli V, Cepko CL, Strettoi E. Inner retinal abnormalities in a mouse - model of Leber's congenital amaurosis. J Comp Neurol. 2004 Feb 9;469(3).351-9. -
25. Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB. AIPL1,  - a protein implicated in Leber's congenital amaurosis, interacts with and aids in  - processing of farnesylated proteins. Proc Natl Acad Sci U S A. 2003 Oct - 28;100(22).12630-5. Epub 2003 Oct 10.
26. Heegaard S, Rosenberg T, Preising M, Prause JU, Bek T. An unusual retinal - vascular morphology in connection with a novel AIPL1 mutation in Leber's - congenital amaurosis. Br J Ophthalmol. 2003 Aug;87(8).980-3.
27. Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn - CF. Identification of a locus (LCA9) for Leber's congenital amaurosis on - chromosome 1p36. Eur J Hum Genet. 2003 May;11(5).420-3.
28. Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF. - Progression of phenotype in Leber's congenital amaurosis with a mutation at the - LCA5 locus. Br J Ophthalmol. 2003 Apr;87(4).473-5.
29. Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Leber's congenital - amaurosis. an update. Eur J Paediatr Neurol. 2003;7(1).13-22. Review.
30. Porto FB, Perrault I, Hicks D, Rozet JM, Hanoteau N, Hanein S, Kaplan J, - Sahel JA. Prenatal human ocular degeneration occurs in Leber's congenital - amaurosis (LCA2). J Gene Med. 2002 Jul-Aug;4(4).390-6.
31. Kiratli H, Bozkurt B. [Macular coloboma type Leber's congenital amaurosis]. J - Fr Ophtalmol. 2002 Jan;25(1).67-70. French.
32. Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, - Ladak SS, Jamal A, Bulman D, Koenekoop RK. Leber's congenital amaurosis with - anterior keratoconus in Pakistani families is caused by the Trp278X mutation in - the AIPL1 gene on 17p. Can J Ophthalmol. 2001 Aug;36(5).252-9.
33. Harris EW. Leber's congenital amaurosis and RPE65. Int Ophthalmol Clin. 2001  - Winter;41(1).73-82. Review.
34. Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, - Bonnemaison M, Dufier JL, Munnich A, Kaplan J. Spectrum of retGC1 mutations in - Leber's congenital amaurosis. Eur J Hum Genet. 2000 Aug;8(8).578-82.
35. Kiratli H, Tatlipinar S. Agenesis of the corpus callosum in a child with - Leber's congenital amaurosis. Ophthalmic Genet. 1999 Sep;20(3).183-7.
36. Bhagat N, Caputo A, Pignato S, Zarbin MA. Coats' response in Leber's - congenital amaurosis. Retina. 1999;19(4).356-9. Erratum in. Retina 2001;21(1).95. -
37. Brecelj J, Stirn-Kranjc B. ERG and VEP follow-up study in children with - Leber's congenital amaurosis. Eye (Lond). 1999;13 ( Pt 1).47-54.
38. Duda T, Venkataraman V, Goraczniak R, Lange C, Koch KW, Sharma RK. Functional - consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene - mutation linked with Leber's congenital amaurosis. Biochemistry. 1999 Jan - 12;38(2).509-15.
39. Perrault I, Châtelin S, Nancy V, Rozet JM, Gerber S, Ghazi I, Souied E, - Dufier JL, Munnich A, de Gunzburg J, Kaplan J. Exclusion of five subunits of cGMP - phosphodiesterase in Leber's congenital amaurosis. Hum Genet. 1998 - Mar;102(3).322-6.
40. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, - Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP. Mutations in RPE65 cause - Leber's congenital amaurosis. Nat Genet. 1997 Oct;17(2).139-41.
41. al-Salem M. Leber's congenital amaurosis in 22 affected members of one - family. J Pediatr Ophthalmol Strabismus. 1997 Jul-Aug;34(4).254-7.
42. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, - Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, - Pittler S, Munnich A, Kaplan J. Retinal-specific guanylate cyclase gene mutations - in Leber's congenital amaurosis. Nat Genet. 1996 Dec;14(4).461-4.
43. Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich  - A, Kaplan J. Evidence of genetic heterogeneity of Leber's congenital amaurosis - (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet. 1996 Jun;97(6).798-801. -
44. Castro-Gago M, Pintos-Martínez E, Beiras-Iglesias A, Maroto S, Campos Y, - Arenas J, Eirís-Puñal J. Leber's congenital amaurosis associated with - mitochondrial dysfunction. J Child Neurol. 1996 Mar;11(2).108-11.
45. Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard - ML, Dufier JL, Ghazi I, Leowski C, et al. A gene for Leber's congenital amaurosis - maps to chromosome 17p. Hum Mol Genet. 1995 Aug;4(8).1447-52.
46. Traboulsi EI, Maumenee IH. Photoaversion in Leber's congenital amaurosis. - Ophthalmic Genet. 1995 Mar;16(1).27-30.
47. Sharma K, Sharma RK, Elhence R, Gulati S, Kher V. Leber's congenital - amaurosis with nephropathy. Indian J Ophthalmol. 1994 Jun;42(2).83-4.
48. Sullivan TJ, Heathcote JG, Brazel SM, Musarella MA. The ocular pathology in - Leber's congenital amaurosis. Aust N Z J Ophthalmol. 1994 Feb;22(1).25-31.
49. Mrak RE, Lange B, Brodsky MC. Broad A bands of striated muscle in Leber's - congenital amaurosis. a new congenital myopathy? Neurology. 1993 - Apr;43(4).838-41.
50. Heher KL, Traboulsi EI, Maumenee IH. The natural history of Leber's - congenital amaurosis. Age-related findings in 35 patients. Ophthalmology. 1992 - Feb;99(2).241-5.
51. Wang J. [Analysis of serum free amino acids in patients with Leber's - congenital amaurosis]. Zhonghua Yi Xue Za Zhi. 1991 Jun;71(6).336-8. Chinese. -
52. De Laey JJ. Leber's congenital amaurosis. Bull Soc Belge Ophtalmol. - 1991;241.41-50. Review.
53. Smith D, Oestreicher J, Musarella MA. Clinical spectrum of leber's congenital - amaurosis in the second to fourth decades of life. Ophthalmology. 1990 - Sep;97(9).1156-61.
54. Hazariwala K, Brownstein S, Polomeno R, Little JM, Labuda D. Leber's - congenital amaurosis with Duchenne's muscular dystrophy. Can J Ophthalmol. 1990 - Jun;25(4).202-7. Review.
55. Dagi LR, Leys MJ, Hansen RM, Fulton AB. Hyperopia in complicated Leber's - congenital amaurosis. Arch Ophthalmol. 1990 May;108(5).709-12.
56. Zeng LH. [Clinical findings and trace metals (zinc & copper) in Leber's - congenital amaurosis]. Zhonghua Yan Ke Za Zhi. 1990 Jan;26(1).26-8. Chinese. -
57. Rogers SJ, Newhart-Larson S. Characteristics of infantile autism in five - children with Leber's congenital amaurosis. Dev Med Child Neurol. 1989 - Oct;31(5).598-608.
58. Haginoya K, Aikawa J, Noro T, Watanabe M, Iinuma K, Narisawa K, Tada K. [Two  - siblings of Leber's congenital amaurosis with an increase in very long chain - fatty acid in blood. relationship between peroxisomal disorders and Leber's - congenital amaurosis]. No To Hattatsu. 1989 Jul;21(4).348-53. Japanese.
59. Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M. Follow-up and diagnostic  - reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol. - 1989 Jun 15;107(6).624-31. Review.
60. Murayama K, Adachi-Usami E. Bilateral macular colobomas in Leber's congenital - amaurosis. Doc Ophthalmol. 1989 Jun;72(2).181-8.
61. Ticho B, Sieving PA. Leber's congenital amaurosis with marbelized fundus and  - juvenile nephronophthisis. Am J Ophthalmol. 1989 Apr 15;107(4).426-8.
62. Russell-Eggitt IM, Taylor DS, Clayton PT, Garner A, Kriss A, Taylor JF. - Leber's congenital amaurosis--a new syndrome with a cardiomyopathy. Br J - Ophthalmol. 1989 Apr;73(4).250-4.
63. Babel J, Klein D, Roth A. Leber's congenital amaurosis associated with high - hyperopia in four sisters. Ophthalmic Paediatr Genet. 1989 Mar;10(1).55-61. -
64. Aikawa J, Noro T, Tada K, Narisawa K, Hashimoto T. The heterogeneity of - Leber's congenital amaurosis. J Inherit Metab Dis. 1989;12 Suppl 2.361-4.
65. Quigley M, Jacob JL. A possible explanation of the new fundus finding in - Leber's congenital amaurosis. Arch Ophthalmol. 1988 Sep;106(9).1164-5.
66. Khune F, Comte P, Vérin P. [Leber's congenital amaurosis and hypermetropia].  - Bull Soc Ophtalmol Fr. 1988 Jun-Jul;88(6-7).829-31. French.
67. Hirashima S, Ohba N. A pedigree of Leber's congenital amaurosis. Ophthalmic - Paediatr Genet. 1988 Mar;9(1).29-36.
68. Diagnostic criteria for Leber's congenital amaurosis. Arch Ophthalmol. 1987 - Oct;105(10).1319-21.
69. Schroeder R, Mets MB, Maumenee IH. Leber's congenital amaurosis. - Retrospective review of 43 cases and a new fundus finding in two cases. Arch - Ophthalmol. 1987 Mar;105(3).356-9.
70. Weleber RG, Tongue AC. Congenital stationary night blindness presenting as - Leber's congenital amaurosis. Arch Ophthalmol. 1987 Mar;105(3).360-5.
71. Hayasaka S, Hara S, Mizuno K, Narisawa K, Tada K. Leber's congenital - amaurosis associated with hyperthreoninemia. Am J Ophthalmol. 1986 Apr - 15;101(4).475-9.
72. Enache D. [Leber's congenital amaurosis]. Rev Chir Oncol Radiol O R L - Oftalmol Stomatol Ser Oftalmol. 1986 Apr-Jun;30(2).119-23. Romanian.
73. Wagner RS, Caputo AR, Nelson LB, Zanoni D. High hyperopia in Leber's - congenital amaurosis. Arch Ophthalmol. 1985 Oct;103(10).1507-9.
74. Skalka H. Leber's congenital amaurosis. Br J Ophthalmol. 1985 May;69(5).396.  -
75. Flanders M, Lapointe ML, Brownstein S, Little JM. Keratoconus and Leber's - congenital amaurosis. a clinicopathological correlation. Can J Ophthalmol. 1984 - Dec;19(7).310-4.
76. King MD, Stephenson JB. Association of Joubert's syndrome with Leber's - congenital amaurosis. Arch Neurol. 1984 Dec;41(12).1235.
77. Chew E, Deutman A, Pinckers A, Aan de Kerk A. Yellowish flecks in Leber's - congenital amaurosis. Br J Ophthalmol. 1984 Oct;68(10).727-31.
78. Bovino JA, Gordon C, Marcus DF. Leber's congenital amaurosis in monozygotic - twins. Am J Ophthalmol. 1984 May;97(5).655.
79. Ellis DS, Heckenlively JR, Martin CL, Lachman RS, Sakati NA, Rimoin DL. - Leber's congenital amaurosis associated with familial juvenile nephronophthisis - and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J - Ophthalmol. 1984 Feb;97(2).233-9.
80. Weinstein JM, Gleaton M, Weidner WA, Young RS. Leber's congenital amaurosis.  - Relationship of structural CNS anomalies to psychomotor retardation. Arch Neurol. - 1984 Feb;41(2).204-6.
81. Mizuno K, Hayasaka S, Tsuchiya M. Leber's congenital amaurosis in a patient - with normal amino acid metabolism and fundus features characteristic of gyrate - atrophy. Am J Ophthalmol. 1983 Dec;96(6).806-7.
82. Nickel B, Hoyt CS. Leber's congenital amaurosis. Is mental retardation a - frequent associated defect? Arch Ophthalmol. 1982 Jul;100(7).1089-92.
83. Roizenblatt J, Peduti Cunha LA. Leber's congenital amaurosis with associated  - nephronophthisis. J Pediatr Ophthalmol Strabismus. 1980 May-Jun;17(3).154-8. -
84. Coker Stogner P. The effects of typical retinitis pigmentosa, Leber's - congenital amaurosis, centro-peripheral dystrophy, and Usher's syndrome on - educational and vocational success and personality development. Int J Rehabil - Res. 1980;3(3).357-66.
85. Pinckers AJ. Leber's congenital amaurosis as conceived by Leber. - Ophthalmologica. 1979;179(1).48-51.
86. Noble KG, Carr RE. Leber's congenital amaurosis. A retrospective study of 33  - cases and a histopathological study of one case. Arch Ophthalmol. 1978 - May;96(5).818-21.
87. Mizuno K, Takei Y, Sears ML, Peterson WS, Carr RE, Jampol LM. Leber's - congenital amaurosis. Am J Ophthalmol. 1977 Jan;83(1).32-42.
88. Margolis S, Scher BM, Carr RE. Macular colobomas in Leber's congenital - amaurosis. Am J Ophthalmol. 1977 Jan;83(1).27-31.
89. Paolozzi C, Fusco G, Amati A, Tata MR, Iura V. [Electroencephalographic and - electroretinographic study of a family with Leber's congenital amaurosis]. Acta - Neurol (Napoli). 1976 May-Jun;31(3).280-90. Italian.
90. Cordier J, Raspiller A, Stehlin B. [Elastorrhexia with ocular manifestations  - and Leber's congenital amaurosis in the same fratry]. Bull Soc Ophtalmol Fr. 1973 - Feb;73(2).359-61. French.
91. Junge J, Euldering F. Leber's congenital amaurosis. a genetical and - pathological study. Trans Ophthalmol Soc U K. 1972;92.859-60.
92. Tipton RE, Hussels IE. Leber's congenital amaurosis and mental retardation. - Birth Defects Orig Artic Ser. 1971 Mar;7(3).198.
93. Manzitti E, Damel A. [Leber's congenital amaurosis]. Arch Oftalmol B Aires. - 1970 Dec;45(12).493-500. Spanish.
94. Rahn EK, Meadow E, Falls HF, Knaggs JG, Proux DJ. Leber's congenital - amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family. Arch  - Ophthalmol. 1968 Feb;79(2).135-41.
95. WAARDENBURG PJ, SCHAPPERT-KIMMIJSER J. ON VARIOUS RECESSIVE BIOTYPES OF - LEBER'S CONGENITAL AMAUROSIS. Acta Ophthalmol (Copenh). 1963;41.317-20.
96. HENKES HE, VERDUIN PC. Dysgenesis or abiotrophy? A differentiation with the - help of the electro-retinogram (ERG) and electro-oculogram (EOG) in Leber's - congenital amaurosis. Ophthalmologica. 1963;145.144-60.