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63 results

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Page 1
Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
Traboulsi EI, Koenekoop R, Stone EM. Traboulsi EI, et al. Ophthalmic Genet. 2006 Dec;27(4):113-5. doi: 10.1080/13816810601013146. Ophthalmic Genet. 2006. PMID: 17148037
Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. ...
Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) c …
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.
Burnight ER, Wiley LA, Drack AV, Braun TA, Anfinson KR, Kaalberg EE, Halder JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA. Burnight ER, et al. Gene Ther. 2014 Jul;21(7):662-72. doi: 10.1038/gt.2014.39. Epub 2014 May 8. Gene Ther. 2014. PMID: 24807808 Free PMC article.
Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently no cure. ...
Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerat …
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Greenwald SH, Charette JR, Staniszewska M, Shi LY, Brown SDM, Stone L, Liu Q, Hicks WL, Collin GB, Bowl MR, Krebs MP, Nishina PM, Pierce EA. Greenwald SH, et al. Am J Pathol. 2016 Jul;186(7):1925-1938. doi: 10.1016/j.ajpath.2016.03.013. Epub 2016 May 18. Am J Pathol. 2016. PMID: 27207593 Free PMC article.
Recently, mutations in the NMNAT1 gene were associated with Leber congenital amaurosis, a severe retinal degenerative disease that causes blindness during infancy. Availability of a reliable mammalian model of NMNAT1-Leber congenital amaurosi …
Recently, mutations in the NMNAT1 gene were associated with Leber congenital amaurosis, a severe retinal degenerative d …
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM. Jacobson SG, et al. Mol Vis. 2009 Jun 2;15:1098-106. Mol Vis. 2009. PMID: 19503738 Free PMC article.
PURPOSE: To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation. METHODS: Two young unrelated LCA patients, ages six years (P1) and 25 years (P2) at last visit, both with the same …
PURPOSE: To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Leb …
Retinal detachment in a patient with leber congenital amaurosis.
Cunningham MA, Boldt HC, Stone EM. Cunningham MA, et al. Retin Cases Brief Rep. 2013 Winter;7(1):102-4. doi: 10.1097/ICB.0b013e31827539a2. Retin Cases Brief Rep. 2013. PMID: 25390536
PURPOSE: To report the unique presentation of a patient with Leber congenital amaurosis who developed a tractional retinal detachment involving the macula and underwent successful pars plana vitrectomy surgery. ...RESULTS: A 54-year-old white woman, with mole …
PURPOSE: To report the unique presentation of a patient with Leber congenital amaurosis who developed a tractional reti …
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM. Stone EM. Am J Ophthalmol. 2007 Dec;144(6):791-811. doi: 10.1016/j.ajo.2007.08.022. Epub 2007 Oct 26. Am J Ophthalmol. 2007. PMID: 17964524
PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this information to devise a general approach to heterogeneous recessive disorders. ...
PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this …
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Retina. 2005 Oct-Nov;25(7):919-29. doi: 10.1097/00006982-200510000-00016. Retina. 2005. PMID: 16205573
PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA). METHODS: One hundred ten LCA patients were screened for various probable disease-causing gene sequence variations. ...
PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis …
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Ophthalmology. 2005 Feb;112(2):349-56. doi: 10.1016/j.ophtha.2004.08.023. Ophthalmology. 2005. PMID: 15691574
OBJECTIVE: To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital amaurosis (LCA). DESIGN: Observational prospective comparative study. ...
OBJECTIVE: To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to …
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Milam AH, et al. Ophthalmology. 2003 Mar;110(3):549-58. doi: 10.1016/S0161-6420(02)01757-8. Ophthalmology. 2003. PMID: 12623820
PURPOSE: To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D. STUDY DESIGN: Comparative human tissue study. ...
PURPOSE: To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by m …
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Jacobson SG, et al. Ophthalmology. 2007 May;114(5):895-8. doi: 10.1016/j.ophtha.2006.10.028. Epub 2007 Feb 16. Ophthalmology. 2007. PMID: 17306875
PURPOSE: To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis pigmentosa GTPase regulating-interacting protein 1) mutation, a form of LCA with recent gene therapy success in an animal model. ...
PURPOSE: To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis …
63 results