Výsledky vyhledávání - "Severe early childhood onset retinal dystrophy"

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

Autor: Michel Michaelides, Anthony G. Robson, Naser Ali, Michalis Georgiou, Tryfon Rotsos, Elizabeth Yang, Parampal S. Grewal, Nikolas Pontikos

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases

Purpose To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09d47290ca9399a329da00ff05b6158
https://doaj.org/article/c1a623000c26418c94cae5c7edfa2317

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Leber congenital amaurosis

Autor: SEVİK, MEHMET ORKUN, ŞAHİN, ÖZLEM

Leber Konjenital Amorozisi (LKA), yaklaşık 150 yıl önce tanımlanan ve erken çocuklukta görme kaybıyla sonuçlanan, kalıtsal retina distrofilerinin en şiddetli olanlarından biridir. Doğumdan beri olan ya da bebeklik çağında başlayan g�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3098::d48684fa7f74621ae2a7942777e4a1d7
https://hdl.handle.net/11424/290395

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Gene therapy for RPE65-related retinal disease

Autor: Fares Antaki, Razek Georges Coussa, Virginia Miraldi Utz, Elias I. Traboulsi

Publikováno v: Ophthalmic genetics. 39(6)

Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9112f24524f5b97ef6bf4d23a9cdb1f3
https://pubmed.ncbi.nlm.nih.gov/30335549

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A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM

Autor: Neruban Kumaran, Anthony G. Robson, Michel Michaelides

Publikováno v: Retinal casesbrief reports. 15(2)

PURPOSE: To report two siblings with NMNAT1-associated retinopathy presenting with a later onset and milder phenotype than previously described. METHODS: Retrospective case series of two siblings. The authors describe two cases of early-onset retinal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88fcab01fd361f5cf91f057337530928
https://pubmed.ncbi.nlm.nih.gov/30004997

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Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Autor: Kumaran, Neruban, Moore, Anthony, Weleber, Richard, Michaelides, Michel

Publikováno v: The British Journal of Ophthalmology
British Journal of Ophthalmology, vol 101, iss 9

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and mark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3abb887cd0f5b6566286006b8d18f68b
https://pubmed.ncbi.nlm.nih.gov/31138590

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Retinal detachment in a child with severe early childhood onset retinal dystrophy

Autor: Brijesh Takkar, Sohini Mandal, Vinod Kumar, Srikanta Kumar Padhy

Publikováno v: BMJ Case Rep

A 10-year-old boy was seen with the complaints of blurring of vision in his left eye (LE) since 3 months. The child had a history of poor vision in both the eyes since early childhood. There was no history of trauma. Birth and family history were ins

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f39741bca581d19623b4edf2c995cb
https://doi.org/10.1136/bcr-2018-227073

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Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy

Autor: Roberto Calcedo, Laura R Erker, William W. Hauswirth, Jeffrey D. Chulay, Margaret Humphries, Mark E. Pennesi, Lauren Jensen, David J. Wilson, J. Timothy Stout, Terence R. Flotte, Richard G. Weleber, Maureen T. McBride, Shalesh Kaushal

Publikováno v: Ophthalmology. 123(7)

Purpose To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations. Design Nonrandomized, multicenter cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a83139e2ae8405cdc7d24026085973
https://pubmed.ncbi.nlm.nih.gov/27102010

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Residual Electroretinograms in Young Leber Congenital Amaurosis Patients with Mutations of AIPL1

Autor: Edwin M. Stone, Niamh B. Stover, Richard G. Weleber, Mark E. Pennesi, Pei Wen Chiang

Leber congenital amaurosis (LCA) is a severe congenital or early-onset inherited retinal dystrophy that classically presents with searching nystagmus, absence of normal pupil responses, flat electroretinograms (ERGs), minimal, if any, vision beyond i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f422acde9841d27544b11982b0c1d23
https://europepmc.org/articles/PMC3208025/

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