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2004 2
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Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG. Deng C, et al. Graefes Arch Clin Exp Ophthalmol. 2022 May;260(5):1543-1550. doi: 10.1007/s00417-021-05508-2. Epub 2022 Jan 10. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35001204 Free PMC article.
PURPOSE: To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants. METHODS: A retrospective study of 27 eyes of 14 patients with RPE65-associated Leber c …
PURPOSE: To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients wit …
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. ...Among the detected 52 PPVs, 32 (61.5%) were missense, seven (13.5%) were splicing, six (11.5%) were nonsen …
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common …
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X, Sun W, Li S, Jia X, Zhang Q. Xiao X, et al. Mol Vis. 2019 Dec 2;25:821-833. eCollection 2019. Mol Vis. 2019. PMID: 31908400 Free PMC article.
RESULTS: Seven homozygous or compound heterozygous mutations, including two novel mutations (c.367C>T, p.Q123* and c.1083-2A>G) and five known mutations in SPATA7, were identified in ten families, including six families with Leber congenital amaurosis ( …
RESULTS: Seven homozygous or compound heterozygous mutations, including two novel mutations (c.367C>T, p.Q123* and c.1083-2A>G) and fi …
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 …
Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.
Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV. Sumaroka A, et al. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. Invest Ophthalmol Vis Sci. 2019. PMID: 31212307 Free PMC article.
PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional imp …
PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these e …
Vitamin A derivatives as treatment options for retinal degenerative diseases.
Perusek L, Maeda T. Perusek L, et al. Nutrients. 2013 Jul 12;5(7):2646-66. doi: 10.3390/nu5072646. Nutrients. 2013. PMID: 23857173 Free PMC article. Review.
Deleterious mutations in these genes are identified in human retinal diseases that cause blindness, such as Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). Herein, we discuss the pathology of 11-cis-retinal deficiency caused by these mutations …
Deleterious mutations in these genes are identified in human retinal diseases that cause blindness, such as Leber congenital …
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.
Jin Y, Li S, Jiang Z, Sun L, Huang L, Zhang T, Liu X, Ding X. Jin Y, et al. Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):11. doi: 10.1167/iovs.65.3.11. Invest Ophthalmol Vis Sci. 2024. PMID: 38466290 Free PMC article.
Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT angiography (SS-OCTA) were conducted. RESULTS: A total of 81.8% (9/11) of CRB1-eoRD presented as Leber congenital amaurosis (LCA). Common clinical ma …
Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT angiography (SS-OCTA) were con …
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. ...The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenit …
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible …
Visual electrophysiological screening in diagnosing infants with congenital nystagmus.
Brecelj J, Stirn-Kranjc B. Brecelj J, et al. Clin Neurophysiol. 2004 Feb;115(2):461-70. doi: 10.1016/j.clinph.2003.10.011. Clin Neurophysiol. 2004. PMID: 14744589
The first recording was performed before the age of 1 year (age 2-11 months, mean age 6.8 months). Follow-up was performed between the ages of 7 months and 6 years (mean age 2.7 years). ERG was detected to flash stimulus and VEP to flash and/or pattern-reversal stim …
The first recording was performed before the age of 1 year (age 2-11 months, mean age 6.8 months). Follow-up was performed between the ages …