Browsing by Author "Ossandón, Diego"
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Item Diagnóstico molecular en pacientes con retinoblastoma: reporte de una serie de casos(Elsevier, 2016) Ossandón, Diego; Zanolli, Mario; Lopez, Juan Pablo; Benavides, Felipe; Perez, Veronica; Repetto, GabrielaObjectives To report the benefits of genetic diagnosis in patients with retinoblastoma. Method Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumor samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes. Results Of the 7 cases were analyzed 4 were male. The mean age at diagnosis was 21 months (range 5–36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analyzed, and a study was performed on the tissue from 2 unilateral enucleated tumors, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumor revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumors. Conclusion Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families.Item Prevalencia de patología oftalmológica en prematuros menores de un año de edad(2012) López, Juan Pablo; Ossandón, Diego; Denk, Oliver; Stevenson, Ricardo; Agurto, Ricardo; Uauy, Andrés; Salinas, Ricardo; Pérez, Marcelo; Cox, Horacio; Maturana, Andrés; Elías, SoledadReportar hallazgos oftalmológicos en niños prematuros examinados antes del año de edad gestacional corregida (EGC). Pacientes y Método: Revisión retrospectiva de fichas clínicas de una serie de prematuros ([peso nacimiento (PN) ≤ 1 500 g y/o ≤ 32 sem edad gestacional (EG)] nacidos en CAS entre 2006-2009, examinados antes del año de EGC. Se consignó EG, PN, antecedente de retinopatía del prematuro (ROP), EGC al examen, refracción, anisometropía y estrabismo. Resultados: De 149 prematuros nacidos en el período, 100 tuvieron examen oftalmológico antes del año de edad (67,14%); el promedio de EG y PN fue 29,3 (rango 23- 36) semanas y 1217 (343-2190) g, respectivamente. El 29% presentó ROP, requiriendo tratamiento el 4%. La EGC promedio al examen oftalmológico fue 6,4 (3-11,5) meses. El equivalente esférico fue +1,34D (-1,75 a +5,75), presentando anisometropía >1D el 2,2%(95% IC, -0,82-5,26). El 3,3%(95% IC, -0,38-7,04) presentaba indicación de lentes según recomendaciones internacionales y el 4%(95% IC, 0,16-7,84) presentó estrabismo. Conclusiones: La baja prevalencia de factores de riesgo para ambliopía detectada en esta cohorte comparada con la reportada para prematuros con ROP severa podría explicarse por la baja prevalencia de ésta última en la presente serie.Item Resultados anatómicos y refractivos en pacientes tratados por retinopatía del prematuro(Elsevier, 2017) Lolas, M; Tuma, Anton; Zanolli, Mario; Agurto, Ricardo; Stevenson, Ricardo; Ossandón, DiegoOBJECTIVE: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP). METHODS: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded. Cases with posterior zone II, zone I ROP, and aggressive posterior ROP (AP-ROP) were treated with intravitreal bevacizumab. All other patients were treated with laser. Follow-up was performed every 3 months, and included fondo evaluation, refraction, and Teller tests. RESULTS: The treated group included 144 eyes of 72 patients, of whom 49 were treated with laser and 23 with intravitreal bevacizumab. One (1.4%) patient from the laser group progressed to stage 4b retinal detachment and required bilateral vitrectomy. Of the remainder, 45 cases had type 1 ROP, 16 had threshold disease, and 11 had AP-ROP. The median of gestational age was 26 weeks (range 23-30), and median of birth weight was 800g (range 405-1350). Median follow-up was 10 months (range 6-8). The Teller test median was 3.2 cycles/cm (range 0.32-13). There were 16 (22%) cases with a myopic refraction of -6 D or more. The sphere median was -1.75 D (range -16.00 to +3.50 D) and the cylindrical median was 0.00 (range -4.5 to +1.5 D). Anatomical success was achieved in 71 (98.6%) of patients. CONCLUSION: Treatment with laser or intravitreal bevacizumab is a highly successful primary treatment for ROP. Anatomical success can be achieved in most cases. Treated patients develop frequent and severe refractive defects, which should be corrected. Vision outcome, measured using the Teller preferential test, shows good resultsItem Using cost-effective intra-arterial chemotherapy to treat retinoblastoma in Chile.(Elsevier, 2014) Ossandón, Diego; Zanolli, Mario; Pérez, Verónica; Zúñiga, Paulo; Belmar, Álvaro; Varas, Mónica; Shields, CarolIntra-arterial chemotherapy (IAC) has proved to be an effective treatment for retinoblastoma, but can be very expensive in developing countries. We report 2 patients from Chile in whom IAC resulted in globe salvation. Both patients had their medical care provided by the public health system and had failed standard therapy.