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Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2022 Apr;106(4):445-451. doi: 10.1136/bjophthalmol-2020-318483. Epub 2021 Mar 12. Br J Ophthalmol. 2022. PMID: 33712480 Free PMC article. Review.
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...Pharmacological approaches intending to decrease photoreceptor degeneration by supplementing 11-cis-retinal and cell therapy's aim to replace the re …
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. ...Pharmacological approa …
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS, Willoughby CE, Abad-Morales V, Turunen JA, Lisch W. Weiss JS, et al. Cornea. 2022 Nov 1;41(11):1337-1344. doi: 10.1097/ICO.0000000000002857. Epub 2022 Jul 4. Cornea. 2022. PMID: 36219210 Review.
Over a decade has passed since the first publication of the IC3D Corneal Dystrophy Nomenclature Revision. Gene therapy is available for an early-onset form of inherited retinal degeneration called Leber congenital amaurosis, but not yet for corneal deg …
Over a decade has passed since the first publication of the IC3D Corneal Dystrophy Nomenclature Revision. Gene therapy is available f …
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS. Uyhazi KE, et al. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. Invest Ophthalmol Vis Sci. 2020. PMID: 32428231 Free PMC article.
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5. ...The time course of photoreceptor degeneration in the Lca5gt/gt mouse model and the efficacy of subretinal gene …
PURPOSE: To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associat …
Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.
Stein L, Roy K, Lei L, Kaushal S. Stein L, et al. Expert Opin Biol Ther. 2011 Mar;11(3):429-39. doi: 10.1517/14712598.2011.557358. Expert Opin Biol Ther. 2011. PMID: 21299439 Review.
INTRODUCTION: The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber congenital amaurosis (LCA) have ushered in a new era of molecular retinal therapeutics for LCA, other blinding retinal disor …
INTRODUCTION: The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber co …
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis.
Fu Y, Zhang T. Fu Y, et al. Adv Exp Med Biol. 2014;801:791-6. doi: 10.1007/978-1-4614-3209-8_99. Adv Exp Med Biol. 2014. PMID: 24664772 Free PMC article.
Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood. ...The aggregation of short-wavelength …
Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Lebe …
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA. Fahim AT, et al. Adv Exp Med Biol. 2019;1185:209-213. doi: 10.1007/978-3-030-27378-1_34. Adv Exp Med Biol. 2019. PMID: 31884613 Free PMC article. Review.
RDH12 is involved in photoreceptor retinoid metabolism and is a potential target for gene therapy, which has been successful in treating RPE65-associated LCA. ...Formal natural history studies are needed to define milestones in disease progression and identify appropriate …
RDH12 is involved in photoreceptor retinoid metabolism and is a potential target for gene therapy, which has been successful in treat …
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q. Yi Z, et al. Exp Eye Res. 2021 Jul;208:108637. doi: 10.1016/j.exer.2021.108637. Epub 2021 May 26. Exp Eye Res. 2021. PMID: 34048777
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. ...The obtained data in this study will be of value in counselling patients and designing future therapeut …
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common …
Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease.
Burgess FR, Hall HN, Megaw R. Burgess FR, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):380-391. doi: 10.1097/APO.0000000000000545. Epub 2022 Aug 30. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041151 Free article.
A total of 59 registered clinical trials are referenced, showing the significant level of interest in the potential for translation of these therapies from bench to bedside. The breadth of therapy design is encouraging, providing multiple possible therapeutic …
A total of 59 registered clinical trials are referenced, showing the significant level of interest in the potential for translation of these …
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. ...RESULTS: Of t …
PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis …
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. Careful clinical and molecular characterization of large coh …
PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this …
17 results