Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

PURPOSE: To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. METHODS: A retrospective cohort of 13 patients with LRAT-RDs. RESULTS: Twelve patients from a genetic isolate carried a homozygous c.1...

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Publicat a:Transl Vis Sci Technol
Autors principals: Talib, Mays, van Schooneveld, Mary J, van Duuren, Roos J. G., Van Cauwenbergh, Caroline, ten Brink, Jacoline B., De Baere, Elfride, Florijn, Ralph J., Schalij-Delfos, Nicoline E., Leroy, Bart P., Bergen, Arthur A., Boon, Camiel J. F.
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2019
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6703192/
https://ncbi.nlm.nih.gov/pubmed/31448181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.8.4.24
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