Genetic testing for inherited ocular conditions in a developing country

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dc.contributor.authorZanolli, Mario
dc.contributor.authorOporto, Joaquin I.
dc.contributor.authorVerdaguer, Juan I.
dc.contributor.authorLopez, Juan Pablo
dc.contributor.authorZacharias, Sergio
dc.contributor.authorRomero, Pablo
dc.contributor.authorOssandon, Diego
dc.contributor.authorDenk, Oliver
dc.contributor.authorAcuna, Olga
dc.contributor.authorLopez, Jose Manuel
dc.contributor.authorStevenson, Ricardo
dc.contributor.authoralamos, Bernardita
dc.contributor.authorIturriaga, Hernan
dc.date.accessioned2025-01-23T19:54:25Z
dc.date.available2025-01-23T19:54:25Z
dc.date.issued2020
dc.description.abstractBackground: 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 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing. Included probands were classified into a diagnostic clinical category and offered genetic testing. Blood samples were sent to foreign accredited diagnostic laboratories, followed by clinical interpretation of the results. Results: Of the 163 patients referred, 104 were enrolled in the study. Median age at disease onset was 2 years (range, 0 to 43 years). A molecular diagnosis was established at a median age of 10 years (range, 0.4 to 50 years). Disease-causing genotypes were identified in 82 of the probands, indicating a mutation detection rate of 78.8%. Mutations were identified in 38 genes, ABCA4 being the most commonly affected (23% of mutations), followed by CRB1 (13% of mutations). Whole-exome sequencing was performed in 6 patients, resulting in a definite diagnosis in 3 (50%). Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity.
dc.fuente.origenWOS
dc.identifier.doi10.1080/13816810.2020.1734944
dc.identifier.eissn1744-5094
dc.identifier.issn1381-6810
dc.identifier.urihttps://doi.org/10.1080/13816810.2020.1734944
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/100685
dc.identifier.wosidWOS:000518742900001
dc.issue.numero1
dc.language.isoen
dc.pagina.final40
dc.pagina.inicio36
dc.revistaOphthalmic genetics
dc.rightsacceso restringido
dc.subjectInherited ocular conditions
dc.subjectsensitivity
dc.subjectgenetic testing
dc.subjectABCA4
dc.subjectLeber's congenital amaurosis
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleGenetic testing for inherited ocular conditions in a developing country
dc.typeartículo
dc.volumen41
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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