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OBJECTIVE: To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy. METHODS: Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing. RESULTS: Of 177 patients with genetic testing, 146 were enrolled for this study. Disease-causing variants were identified in 117 patients (variant detection rate of 80.1%). Pathogenic variants were found in 47 genes, with ABCA4 being the most common gene (17.9%), followed by CRB1 (11.9%). 64.1% of patients with a genetic diagnosis have a variant in genes for which gene therapy has been studied and only 40.1% have a variant in genes with studies for gene therapy in clinical phase. CONCLUSIONS: Genetic testing has opened new horizons in the management of patients with hereditary ocular diseases. About two-thirds of the patients had pathogenic variants in genes for which gene therapy has been evaluated. However, many studies are in the pre-clinical phase. The expectations of patients undergoing genetic study and their families should be managed accordingly.

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ACTUALIZACIÓN: Este resumen Epistemonikos (Living FRISBEE: Living FRIendly Summary of the Body of Evidence using Epistemonikos) es una actualización del resumen publicado en diciembre de 2014. INTRODUCCIÓN: La retinopatía diabética proliferativa conlleva un alto riesgo de ceguera si no es tratada de manera oportuna. El tratamiento muchas veces incluye la vitrectomía. El uso preoperatorio de bevacizumab, un anti-factor de crecimiento endotelial vascular, podría mejorar variables intraoperatorias que facilitan la cirugía y mejorarían el curso postoperatorio. MÉTODOS: Realizamos una búsqueda en Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante el cribado de múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, analizamos los datos de los estudios primarios, realizamos un metanálisis y preparamos una tabla de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES: Identificamos cinco revisiones sistemáticas que en conjunto incluyeron 16 estudios primarios, de los cuales 14 corresponden a ensayos aleatorizados. Concluimos que el uso preoperatorio de bevacizumab disminuye la incidencia de hemorragia vítrea en el postoperatorio temprano y probablemente también en el postoperatorio tardío, pero no está claro su efecto sobre la agudeza visual. Además, probablemente disminuye el tiempo quirúrgico, podría disminuir la incidencia de roturas retinianas iatrogénicas, y si bien no está claro que disminuya la ocurrencia de sangrado intraoperatorio, podría disminuir la necesidad de uso de endodiatermia.

UPDATE: This Living FRISBEE (Living FRIendly Summary of the Body of Evidence using Epistemonikos) is an update of the summary published in December 2014. INTRODUCTION: Proliferative diabetic retinopathy can cause severe vision loss and even blindness if left untreated. Vitrectomy is often required in the treatment of more severe cases. Preoperative administration of bevacizumab, a humanized anti-vascular endothelial growth factor would improve intraoperative variables that facilitate surgery and improve postoperative course. METHODS: We searched in Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We extracted data from the systematic reviews, reanalyzed data of primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. RESULTS AND CONCLUSIONS: We identified five systematic reviews including 16 studies overall, of which 14 were randomized trials. We concluded the preoperative use of intravitreal bevacizumab reduces the rate of vitreous hemorrhage in the early postoperative period, and probably also in the late postoperative period, but its effect on visual acuity is not clear. Furthermore, it probably decreases the surgical time and may decrease the incidence of iatrogenic retinal breaks. Although we are uncertain whether preoperative bevacizumab decreases intraoperative bleeding, it may reduce the need for endodiathermy.

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We report the case of a 50-year-old man who presented with systemic vasculitis associated with Fasciola hepatica infection. The patient presented with severe skin, kidney, spleen, ophthalmic, and neurological compromise. An immunological examination for primary vasculitis was negative and other infections were discounted by microbiological and serological analyses. The patient was treated with steroids without clinical response. The Fasciola hepatica infection was confirmed by the presence of specific immunoglobulin G (IgG) serum antibodies detected by a quantitative enzyme-linked immunosorbent assay (ELISA) with an optical density (OD) of 0.483 OD units (normal value<0.170 OD units) and a high-titre complement fixation (1/80 dilution). The patient received treatment with triclabendazole and all symptoms and systemic manifestations resolved within weeks. Hence, this previously unreported vasculitis-associated infection, if identified opportunely, can be treated and cured.

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BACKGROUND: Scleritis and episcleritis may extend to adjacent ocular tissues with blinding consequences and may be associated with potentially lethal systemic disorders. AIM: To evaluate the ocular complications and systemic disease associations of the different types of scleritis and episcleritis. PATIENTS AND METHODS: Forty six patients with refractory scleritis and episcleritis were studied and treated during the period 1991 to 1998. RESULTS: Necrotizing type was the most common and severe category in the scleritis group of patients. A decrease in vision occurred in 58.3% of patients with scleritis v/s a 23.5% of patients with epiescleritis (p < 0.05). Uveitis was present in 35.4% of patients with scleritis and scleromalacia was present in 33.3% (p < 0.05). A specific disease association was uncovered in 51% of scleritis and in 38% of episcleritis patients. Rheumatoid arthritis, primary systemic vasculitic disease and Sjögren syndrome with vasculitis were the most common associated systemic diseases. Three patients with scleritis had tuberculosis. CONCLUSIONS: Scleritis is more severe than episcleritis, and necrotizing scleritis is the most severe type of scleritis. Classification of scleritis and episcleritis provides valuable prognostic information. A meticulous approach for the detection of a specific associated disease must be undertaken. Scleritis associated with vasculitis has a worse ocular prognosis than other non infectious diseases. Cyclophosphamide is the most effective immunosuppressive treatment to control severe ocular involvement.

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BACKGROUND: Cyclosporin A has an adequate immunosuppressive capacity and can be useful in the treatment of non infectious ocular inflammatory diseases. AIM: To describe the clinical effect of cyclosporin A treatment in low doses, along with corticosteroids, in the treatment of refractory ocular inflammatory diseases. PATIENTS AND METHODS: Twenty patients (13 female), aged 17 to 74 years old with severe and refractory ocular inflammatory diseases were studied. All except one, received variable doses of prednisone (10 to 60 mg/kg/day) and all received cyclosporin in doses that started in 2.5 mg/day and were increased to 5 mg/kg/day, according to clinical response. Patients were followed from 8 to 24 months, with monthly assessments of ocular inflammation (using a four point score), visual acuity and adverse effects of treatment. RESULTS: A two points or more reduction in the ocular inflammation score was observed in 52% of patients. Visual acuity improved in 10 subjects, stabilized in 8 and worsened in 2. Prednisone doses were reduced in most patients. Observed adverse effects were hypertension in 2 patients, creatinine elevation in 2, gastrointestinal disturbances in 3 and hypertrichosis in 12. A reduction of cyclosporin dose was required in these cases, but it was discontinued only in one patient with a vascular purpura. CONCLUSIONS: Low cyclosporin doses, associated to prednisone, are useful to reduce inflammation and improve visual acuity in patients with non infectious ocular inflammatory diseases, refractory to other treatment methods.

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BACKGROUND: Herpetic keratitis is the main infectious cause of corneal opacity. The existence of effective antiviral agents underscores the need of an early diagnosis. AIM: To correlate clinical features of herpetic keratitis with virological studies. PATIENTS AND METHODS: Forty one patients with a clinical diagnosis of herpetic keratitis were studied. Viral isolation, polymerase chain reaction (PCR) and typification were done in a sample taken by swabbing the ocular lesion. RESULTS: Twenty six patients (31% female) had epithelial keratitis, that was mild or moderate in 88% of cases and acute in 77% of them. In 20 patients (77%), viral isolation and PCR were positive (HSV-2 in one case). Fifteen patients (67% female) had stromal keratitis, 93% of cases were moderate or severe and 53% were acute. Viral isolation was negative in all cases and in 20% PCR was positive. CONCLUSIONS: Viral isolation and PCR were equally sensitive in epithelial keratitis, but in stromal keratitis only PCR could detect the virus. Moderate acute dendrite was the predominant clinical manifestation. The higher proportion of women with stromal keratitis supports its possibly autoimmune etiology. HSV-2 is seldomly isolated and possibly associated to vertical transmission.

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UNLABELLED: The effectiveness, toxicity and prognostic factors influencing responses to cyclophosphamide (CP) iv pulses plus oral glucocorticosteroids (GC) in patients with GC-resistant ocular inflammatory diseases (OID) was evaluated in a cohort of 15 consecutive patients suffering from active, non-infectious OID refractory to oral GC. All patients underwent monthly evaluations with clinical, hematological, hepatic, renal and ophthalmologic tests. These included checking visual acuity and both anterior chamber and posterior segment inflammation. The overall effect evaluated by repeated measurements ANOVA demonstrated that after an average of 5 CP pulses 1-10, the group showed significant improvement regarding of visual acuity and inflammation (p < 0.000001). Amelioration was not sustained over time in patients with granulomatous uveitis. Patients with retinal vasculitis experienced rapid and sustained recovery. By the end of the follow-up period, 53% of the patients had improved, 20% remained stationary and 26% suffered visual acuity deterioration as compared with the baseline. No serious side effects were detected during treatment and follow-up. CONCLUSIONS: A combination of oral GC and iv CP pulses appears to be an effective way to treat patients suffering from noninfectious, non-granulomatous, GC-resistant OID.

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The pathogenesis of uveitis is not entirely clear. Diverse clinical and experimental findings support the participation of immunologic mechanisms. In fact, uveitis may appear along with many immunologic systemic diseases. In this article, possible etiologic agents of uveitis are described and experimental models discussed. The immunologic mechanisms are analyzed and a unifying hypothesis is presented.

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A 17-year-old patient with long-standing poorly controlled type I diabetes mellitus developed bilateral transient edema of the optic disc with minimal visual impairment. Evaluation with fluoresceins angiography revealed the typical pattern of diabetic papillopathy with disc swelling and peripapillary capillary dilatation. Complete resolution occurred within 6 months, with no specific therapy other than improvement of metabolic control with insulin therapy. Early diagnosis of this complication is required to avoid ocular damage.

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Se trataron 55 pacientes portadores de una litiasis renal o ureteral alta con cirugía percutánea. El porcentaje global de éxito fue de 100% con 3,6% de cálculos residuales. Se utilizó anestesia peridural en todos los enfermos. No hubo mortalidad y la morbilidad fue baja. El promedio día de estadía fue de 4,5. Se analiza la relación entre la dilatación pielocalicial, la dificultad de punción y las complicaciones operatorias. También la relación entre el tipo de cálculo y las complicaciones operatorias

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The level of circulating immune complexes (CIC) in 31 patients with primary anterior uveitis was determined by an ELISA method (C1q in solid phase). In addition, we measured antinuclear antibodies (ANA), HLAB 27, C3 and C4. Increased levels of CIC were found in 38% of patients (Group I), the remainder had normal levels (Group II). Positive ANA were found in 33% of patients in Group I and 26% of patients in Group II. The clinical findings and course of uveitis was similar in both groups. Chronic uveitis was associated to greater levels of CIC as compared to recurrent uveitis among patients in Group I (p less than 0.0001). Also, moderate sequelae from uveitis were associated to higher CIC levels.

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Se estudia la flora conjuntival y palpebral de 100 sujetos sanos que se desempenan en el Hospital Clinico de la Universidad de Chile, encontrandose cultivo conjuntival positivo en un 49% de los casos.En el parpado se obtuvo un 100% de cultivos positivos. El germen mas frecuentemente aislado tanto en parpado como en conjuntiva fue el Staphylococcus epidermidis (42% y 87%, respectivamente); no se encontro diferencia significativa de la flora al compararla con la literatura revisada que se referia fundamentalmente a sujetos de ambiente extrahospitalario

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Se describen dos casos de vitreorretinopatia familiar exudativa, en hermanos de 18 y 12 anos de edad. Ambos presentan las alteraciones caracteristicas de la segunda fase de la enfermedad. El menor de ellos presenta un desprendimiento retinal exudativo en un ojo y una cicatriz fibrovascular en periferia temporal con traccion papilar y retinal en el otro ojo. Se comenta brevemente el diagnostico diferencial y se insiste en el tratamiento precoz de las alteraciones vasculares

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La asimetria en la relacion del tamano de la excavacion de la papila se considera sugerente de glaucoma. Se estudia la incidencia de asimetria de la excavacion papilar en 181 sujetos, sin antecedentes de glaucoma, mediante un metodo fotografico.El 14% de los sujetos mostro diferencias mayores al 20% entre ambos ojos, siendo por lo tanto considerados como asimetricos. No se demostro correlacion entre la edad y el tamano de la excavacion de la papila. El valor promedio para el tamano de la excavacion fue de 0,28 determinado en el eje horizontal

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Se presenta un caso de deleccion intersticial del brazo largo del cromosoma 13, asociado a retinoblastoma unilateral y manchas de Brushfeld en el iris de ambos ojos. La nina presento retraso del desarrollo psicomotor, trigonocefalia, microgmatismo, pabellones auriculares promientes y dismorfias sutiles de manos y pies. El estudio histopatologico revelo un retinoblastoma multifocal, moderadamente bien diferenciado e hipoplasia del iris periferico

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Se estudian 20 pacientes que presentaron un desprendimento retinal por un pelotazo en el juego del futbol. El diagnostico de desprendimiento retinal se hizo dentro de la primera semana en 4 casos y dentro del primer mes en 10 casos, lo que sugiere que las rupturas retinales se producirian en el momento mismo del impacto y el desprendimiento retinal despues de un intervalo variable en cada enfermo. En la inmensa mayoria de los casos se observaron dialisis o agujeros ovalados en el cuadrante superotemporal. La lesion macular es frecuente. El pronostico para la reaplicacion quirurgica de la retina es bueno, pero la vision final guarda relacion con el estado de la macula y con la antiguedad del desprendimiento

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Se presenta un estudio clinico de 13 casos de pacientes con el sindrome de la presunta oculotoxocariasis. Los casos mas caracteristicos son aquellos que presentan una masa fusiforme, blanco-nacarada, epiretinal, que en su extremo central se aguza y forma um pliegue "papilofilico", ya que siempre llega hasta el disco optico.Se explica la utilidad diagnostica del examen serologico llamado ELISA test

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