Genetic testing for inherited ocular conditions in a developing country.,Ophthalmic Genetics

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Genetic testing for inherited ocular conditions in a developing country.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-03-06 , DOI: 10.1080/13816810.2020.1734944
Mario Zanolli _{1,

2} , Joaquín I Oporto ₃ , Juan I Verdaguer ₄ , Juan Pablo López ₁ , Sergio Zacharías ₄ , Pablo Romero ₁ , Diego Ossandón _{1,

2} , Oliver Denk ₁ , Olga Acuña ₄ , José Manuel López ₄ , Ricardo Stevenson ₅ , Bernardita Álamos ₆ , Hernán Iturriaga ₄

Affiliation

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 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.

更新日期：2020-03-06

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