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Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
Kondkar AA, Abu-Amero KK. Kondkar AA, et al. Exp Eye Res. 2019 Dec;189:107834. doi: 10.1016/j.exer.2019.107834. Epub 2019 Oct 19. Exp Eye Res. 2019. PMID: 31639339 Review.
Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal dystrophy responsible for early-onset childhood blindness in infancy. …
Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) …
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.
Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A. Papadopoulos I, et al. Eur J Pediatr. 2019 Mar;178(3):323-329. doi: 10.1007/s00431-018-3299-3. Epub 2018 Nov 29. Eur J Pediatr. 2019. PMID: 30499050
Among 44 members of the pedigree, 10 (22%) were identified homozygous and 34 (59%) heterozygous for this mutation. All patients had congenital blindness and 7 of them had also impaired bone mineral density. ...Patients who received bisphosphonate treatment responded …
Among 44 members of the pedigree, 10 (22%) were identified homozygous and 34 (59%) heterozygous for this mutation. All patients had conge …
Physiological and tissue-specific vectors for treatment of inherited diseases.
Toscano MG, Romero Z, Muñoz P, Cobo M, Benabdellah K, Martin F. Toscano MG, et al. Gene Ther. 2011 Feb;18(2):117-27. doi: 10.1038/gt.2010.138. Epub 2010 Oct 21. Gene Ther. 2011. PMID: 20962871 Review.
After more than 1500 gene therapy clinical trials in the past two decades, the overall conclusion is that for gene therapy (GT) to be successful, the vector systems must still be improved in terms of delivery, expression and safety. ...Impressive results were obtain …
After more than 1500 gene therapy clinical trials in the past two decades, the overall conclusion is that for gene therapy (GT …
Brief Report: Intersection of Sets of Symptoms Between Congenital Blindness and ASD: Proposing of Differential Criteria.
Jarjoura W. Jarjoura W. J Autism Dev Disord. 2024 Jan;54(1):389-391. doi: 10.1007/s10803-022-05585-0. Epub 2022 May 20. J Autism Dev Disord. 2024. PMID: 35596028
To propose novel differential criteria of the DSM-5 for diagnosing transient Autistic-like behaviors in children with congenital blindness as a secondary condition. Most references indicate a significantly higher prevalence of autism in children with congenital …
To propose novel differential criteria of the DSM-5 for diagnosing transient Autistic-like behaviors in children with congenital b …
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., congenital …
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congen …
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2005 Sep 2;11:705-12. Mol Vis. 2005. PMID: 16163268 Free article.
PURPOSE: Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. ...
PURPOSE: Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximatel …