An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congénital amaurosisHEEGAARD, S; ROSENBERG, T; PREISING, M et al.British journal of ophthalmology. 2003, Vol 87, Num 8, pp 980-983, issn 0007-1161, 4 p.Article

La neurorétinite stellaire idiopathique de Leber : à propos de neuf cas = Leber's idiopathic stellate neuroretinitis. Report of nine casesHAMARD, P; HAMARD, H; NGOHOU, S et al.Journal français d'ophtalmologie. 1994, Vol 17, Num 2, pp 116-123, issn 0181-5512Article

Does sporadic Leber's disease exist?NIKOSKELAINEN, E; NUMMELIN, K; SAVONTAUS, M.-L et al.Journal of clinical neuro-ophthalmology. 1988, Vol 8, Num 4, pp 225-229, issn 0272-846XArticle

Neuroretinite stellata idiopatica di Leber: a manifestazione bilaterale asincrona. Caso clinico = Leber's idiopathic stellate neuroretinitis with asynchronous bilateral onset: case reportCOLOMBATI, S; PASANISI, P; LOSAVIO, P et al.Annali di ottalmologia e clinica oculistica. 1993, Vol 119, Num 12, pp 853-856, issn 0003-4665Article

Evidence against an X-linked locus close to DX37 determining visual loss susceptibility in British and Italian families with leber hereditary optic neuropathySWEENEY, M. G; DAVIS, M. B; LASHWOOD, A et al.American journal of human genetics. 1992, Vol 51, Num 4, pp 741-748, issn 0002-9297Article

Les altérations de l'ADN mitochondrial dans la névrite optique de Leber : applications diagnostiques = Alterations of mitichondrial DNA in Leber's hereditary optic neuropathy diagnostical applicationsPUECH, B; DUMUR, V; HACHE, J.-C et al.Bulletin des sociétés d'ophtalmologie de France. 1991, Vol 91, Num 3, pp 313-317, issn 0081-1270Article

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosisLAMBERT, S. R; KRISS, A; TAYLOR, D et al.American journal of ophthalmology. 1989, Vol 107, Num 6, pp 624-631, issn 0002-9394Article

Mutations in LCA5, encoding the ciliary protein lebercilin, cause leber congenital amaurosisDEN HOLLANDER, Anneke I; KOENEKOOP, Robert K; DHARMARAJ, Sharola et al.Nature genetics. 2007, Vol 39, Num 7, pp 889-895, issn 1061-4036, 7 p.Article

Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysisISASHIKI, Y; OHBA, N; SAWADA, A et al.Japanese journal of ophthalmology. 1992, Vol 36, Num 2, pp 197-204, issn 0021-5155Article

Leber herediatry optic neuropathy : identification of the same mitochondrial NDI mutation in six pedigreesHOWELL, N; BINDOFF, L. A; MCCULLOUGH, D. A et al.American journal of human genetics. 1991, Vol 49, Num 5, pp 939-950, issn 0002-9297Article

Clinical spectrum of Leber's congenital amaurosis in the second to fourth decades of lifeSMITH, D; OESTREICHER, J; MUSARELLA, M. A et al.Ophthalmology (Rochester, MN). 1990, Vol 97, Num 9, pp 1156-1161, issn 0161-6420, 6 p.Article

Leber's hereditary optic atrophy : an atypical case with response to hydroxycobalamine therapyCHEW, S. J.Singapore medical journal. 1990, Vol 31, Num 3, pp 293-294, issn 0037-5675Article

NMNAT1 mutations cause Leber congenital amaurosisFALK, Marni J; QI ZHANG; STANISZEWSKA, Magdalena et al.Nature genetics. 2012, Vol 44, Num 9, pp 1040-1045, issn 1061-4036, 6 p.Article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWISZNIEWSKI, Wojciech; LEWIS, Richard Alan; STOCKTON, David W et al.Human genetics. 2011, Vol 129, Num 3, pp 319-327, issn 0340-6717, 9 p.Article

Leber's congenital amaurosis in 22 affected members of one familyAL-SALEM, M.Journal of pediatric ophthalmology and strabismus. 1997, Vol 34, Num 4, pp 254-257, issn 0191-3913Article

Leber's hereditary optic neuropathyVOLPE, N. J; LESSELL, S.International ophthalmology clinics. 1993, Vol 33, Num 2, pp 153-168, issn 0020-8167Article

Remission of Leber's hereditary optic neuropathy with idebenoneMASHIMA, Y; HIIDA, Y; OGUCHI, Y et al.Lancet (British edition). 1992, Vol 340, Num 8815, pp 368-369, issn 0140-6736Article

Amaurose congénitale de Leber et hypermétropie = Hyperopia in Leber's congenital amaurosisKHUNE, F; COMTE, P; VERIN, P et al.Bulletin des sociétés d'ophtalmologie de France. 1988, Vol 88, Num 6-7, pp 829-831, issn 0081-1270Article

Attainment of educational levels in patients with leber's congenital amaurosisAPUSHKIN, M. A; FISHMAN, G. A.Ophthalmology (Rochester, MN). 2006, Vol 113, Num 3, pp 481-482, issn 0161-6420, 2 p.Article

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosisWOODRUFF, Michael L; ZHONGYAN WANG; HAE YUN CHUNG et al.Nature genetics. 2003, Vol 35, Num 2, pp 158-164, issn 1061-4036, 7 p.Article

Leber's congenital amaurosisYANG, R; YEN, M.-Y; WANG, A.-G et al.Annals of ophthalmology. Glaucoma. 1999, Vol 31, Num 4-5, pp 257-260, issn 1079-4794Article

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potentialJACOBSON, Samuel G; CIDECIYAN, Artur V; ALEMAN, Tomas S et al.Ophthalmology (Rochester, MN). 2007, Vol 114, Num 5, pp 895-898, issn 0161-6420, 4 p.Article

Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosisDEN HOLLANDER, Anneke I; KOENEKOOP, Robert K; HOYNG, Carel B et al.American journal of human genetics. 2006, Vol 79, Num 3, pp 556-561, issn 0002-9297, 6 p.Article

Clinical phenotypes in carriers of Leber congenital amaurosis mutationsGALVIN, Jennifer A; FISHMAN, Gerald A; STONE, Edwin M et al.Ophthalmology (Rochester, MN). 2005, Vol 112, Num 2, pp 349-356, issn 0161-6420, 8 p.Article

Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutationsAL-KHAYER, Kholoud; HAGSTROM, Stephanie; PAUER, Gayle et al.American journal of ophthalmology. 2004, Vol 137, Num 2, pp 375-377, issn 0002-9394, 3 p.Article