Browsing by Author "Zanolli, Mario"
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Item A national telemedicine network for retinopathy of prematurity screening(2018) Ossandon, Diego; Zanolli, Mario; Stevenson, Ricardo; Agurto, Ricardo; Ortiz, Paula; Dotan, GadTo report the results of retinopathy of prematurity (ROP) screening by a telemedicine sys- tem in Chile and evaluate its usefulness for referring patients who require treatment. METHODS Premature infants at risk of developing ROP from 11 neonatal intensive care units were included. Screening was performed on all infants born at a gestational age of \32 weeks and/or birth weight of\1500 g. A trained nonphysician operator used an imaging system to capture retinal images, which were reviewed by two independent ROP experts. All in- fants that required treatment were referred for further evaluation. RESULTS The study included 2,048 eyes of 1,024 premature infants. Mean gestational age was 28.8 2.2 weeks, and mean birth weight was 1128 279 g. A total of 5,263 telemedicine examinations were performed and reported. The average number of image sets per patient was 2.6 2.5. Of the 5,263 images, 4,903 (93%) were recorded to at least the end of zone II; 5,172 (98%) were graded as having good quality, allowing for staging of ROP disease. Forty-two infants (4%) were referred for treatment. Discharged patients with ROP type 2 that regressed did not present with any complications or adverse effects during 6 months’follow-up. CONCLUSIONS Our study demonstrates the utility of telemedicine screening for ROP with ophthalmologist readers in a developing country. Telemedicine screening was able to detect treatment-requiring ROP. Most of the images had good quality and showed the end of zone II, two variables sufficient to discharge patients.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 Nistagmo secundario a albinismo con compromiso ocular en paciente femenina(2020) Schonhaut, Luisa; Britzmann, Joanna; Zanolli, Mario; Pavlov, Jovanka; Hasbún Z., Trinidad; Repetto, GabrielaEl nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. Objetivo: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. Caso Clínico: Paciente femenino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. Conclusión: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronósticoItem 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.Item Visual outcome following bilateral non-arteritic anterior ischemic optic neuropathy: a systematic review and meta-analysis(BioMed Central, 2017) Keren, Shay; Zanolli, Mario; Dotan, GadBackground: Many patients who suffer unilateral non-arteritic anterior ischemic optic neuropathy (NAION) will eventually develop the same condition in their other eye, worrying them about losing vision in both eyes. The purpose of this meta-analysis is to determine whether it is possible to predict the visual outcome of the consecutive NAION event based on initial presentation and to compare mean visual loss of firstly versus secondly affected eyes. Methods: A systematic review and meta-analysis of studies published between January 1st 1966 and May 31st 2016 reporting on visual acuity and/or visual field loss of both affected eyes, measured either at presentation or follow-up following bilateral NAION. Results: Ten studies were included in the meta- analysis of visual acuity, including 9 retrospective reports and one randomized clinical trial, and five retrospective studies were included in visual field meta-analysis. A significant correlation exists for visual acuity (R = 0.387, P < 0.001) in both eyes of the same patient following bilateral NAION, and also for visual field loss (R = 0.445, P < 0.001) in the two eyes. The calculated coefficient of determination (R2 ) of 0.149 for visual acuity, and 0.198 for visual field loss indicates that for any given individual suffering from unilateral NAION only 15% of visual acuity and 20% of visual field loss in the secondly affected eye can be explained by these outcomes in the first eye. In addition, there was no difference in mean visual outcome of the first versus second NAION events (standardized mean differences of visual acuity 0.008, P = 0.890; and visual field loss, −0.019, P = 0.819). Conclusion: Even though a weak connection exists between visual outcome in both eyes following bilateral NAION it is still impossible to predict with certainty the visual outcome of a sequential contralateral NAION event based on the severity of visual loss in the first affected eye. Measures often taken after the first event are ineffective in improving the visual outcome of a second event should it occur.