Article
Genetic testing for inherited ocular conditions in a developing country.
Ophthalmic genetics - 1 Feb 2020
Zanolli Mario, Oporto Joaquín I, Verdaguer Juan I, López Juan Pablo, Zacharías Sergio, Romero Pablo, Ossandón Diego, Denk Oliver, Acuña Olga, López José Manuel, Stevenson Ricardo, Álamos Bernardita, Iturriaga Hernán
Abstract excerpt
Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August...
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