| Autor: |
Zanolli M; Clínica Alemana de Santiago- Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.; Departamento de oftalmología, Hospital de niños Roberto del Río, Santiago, Chile., Oporto JI; Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile., Verdaguer JI; Fundación Oftalmológica Los Andes, Universidad de los Andes, Santiago, Chile., López JP; Clínica Alemana de Santiago- Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile., Zacharías S; Fundación Oftalmológica Los Andes, Universidad de los Andes, Santiago, Chile., Romero P; Clínica Alemana de Santiago- Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile., Ossandón D; Clínica Alemana de Santiago- Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile.; Departamento de oftalmología, Hospital de niños Roberto del Río, Santiago, Chile., Denk O; Clínica Alemana de Santiago- Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile., Acuña O; Fundación Oftalmológica Los Andes, Universidad de los Andes, Santiago, Chile., López JM; Fundación Oftalmológica Los Andes, Universidad de los Andes, Santiago, Chile., Stevenson R; Centro de la Visión, Santiago, Chile., Álamos B; Instituto Oftalmológico Integral, Santiago, Chile., Iturriaga H; Fundación Oftalmológica Los Andes, Universidad de los Andes, Santiago, Chile. |
| Abstrakt: |
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. |
