Browsing by Author "Lopez, Jose Manuel"

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    C(-106)T polymorphism of the aldose reductase gene and the progression rate of diabetic retinopathy
    (ELSEVIER IRELAND LTD, 2006) Olmos, Pablo; Bastias, Maria Juliana; Vollrath, Valeska; Toro, Luis; Trincado, Arturo; Salinas, Pablo; Claro, Juan Carlos; Lopez, Jose Manuel; Acosta, Ana Maria; Miquel, Juan Francisco; Castro, Juan
    Purpose: To study the C(-106)T polymorphism in the promoter of the aldose reductase (ALR2) gene: (a) its local prevalence and (b) its modulation of the susceptibility for developing retinopathy.
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    Genetic testing for inherited ocular conditions in a developing country
    (2020) Zanolli, Mario; Oporto, Joaquin I.; Verdaguer, Juan I.; Lopez, Juan Pablo; Zacharias, Sergio; Romero, Pablo; Ossandon, Diego; Denk, Oliver; Acuna, Olga; Lopez, Jose Manuel; Stevenson, Ricardo; alamos, Bernardita; Iturriaga, Hernan
    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.