Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.

PURPOSE: We report the first known case of eye findings associated with a Fas-associated protein with death domain (FADD) gene mutation, an exceedingly rare entity. OBSERVATIONS: A 7-year-old boy was referred for decreased vision and eye examination revealed cystoid macular edema and peripheral retinal ischemia in both eyes and progression to tractional retinal detachment in the right eye. CONCLUSIONS AND IMPORTANCE: This case suggests that baseline and annual ophthalmic screening may be beneficial in individuals with FADD mutations. However, greater documentation of cases may be necessary before deriving a clear interval screening recommendation.

Clinical and imaging features of congenital and acquired isolated inferior rectus muscle hypofunction.

BACKGROUND: Inferior rectus (IR) underaction may arise from various causes that are distinguishable through imaging. We investigated clinical and imaging characteristics of congenital and acquired causes of IR underaction. METHODS: Cases of IR underaction were selected from data prospectively collected in a study of orbital imaging in strabismic patients. RESULTS: Review identified 3 cases of congenital IR underaction (2 with bilateral IR aplasia and 1 with unilateral IR hypoplasia), 12 acquired cases, including 4 due to denervation (2 idiopathic, 1 after multiple strabismus surgeries, 1 after head trauma), and 8 cases of direct IR damage (5 with orbital trauma and 3 with previous surgery, including 2 sinus surgery and 1 laser blepharoplasty). Of the 23 cases, 11 adults had high-resolution magnetic resonance imaging, and 2 children had computed tomography. Imaging identified the anatomic diagnosis in congenital cases; in acquired cases, imaging helped to identify atrophy and exclude alternative orbital causes; and in direct mechanical damage, imaging clarified the mechanism of underaction, extent of IR damaged, and the degree of retained contractility. Patients with congenital IR absence or hypoplasia exhibited A pattern exotropia that was typically absent in isolated acquired denervation or direct IR damage. CONCLUSIONS: Orbital imaging demonstrates a variety of abnormalities in patients with congenital or acquired IR hypofunction, helping to clarify the underlying mechanism and guide management.

[Adenovirus keratoconjunctivitis acquired in an ophthalmology clinic]. / Queratoconjuntivitis por adenovirus generadas a partir de una consulta oftalmológica.

INTRODUCTION: Eye infection is a common cause of ophthalmologic consultation. Adenovirus keratoconjunctivitis outbreaks are common worldwide but its impact and clinical characteristic in Chilean population is unknown. OBJECTIVE: To describe a series of adenovirus keratoconjunctivitis cases. PATIENTS AND METHOD: The Index case and contacts received medical care in the Hospital Clínico Universidad de Chile between April and August 2006. A complete ophthalmologic exam and microbiologic evaluation was performed. RESULTS: Nine patients presented a pattern of characteristic epidemic keratoconjunctivitis. In x cases sub-corneal epithelial infiltrates were observed for a period of more than six months. Three affected patients were ophthalmologists, staff at the Hospital. In seven patients ADV was isolated all belonging to type D genus. CONCLUSIONS: Adenovirus type D caused epidemic keratoconjunctivitis in a series of Chilean individuals. Ophthalmologist may have transmitted the virus to patients.

Modified Anterior Superior Oblique Tuck: A Case Series.

PURPOSE: Selection of the ideal procedure to correct symptomatic excyclotropia depends on several factors including the degree of torsion and associated vertical, horizontal and pattern deviation. Selective tuck of the anterior temporal torsional fibers of the superior oblique (SO) tendon is an alternative procedure to the classical Harada-Ito. The purpose of this study is to report its stability and results. METHODS: Retrospective review of all consecutive patients with symptomatic excyclotorsion of at least 5º (degrees) treated by selectively splitting and tucking the anterior temporal fibers of the SO tendon. Torsion in primary position was measured using the double Maddox Rods. Patients with additional symptomatic vertical or horizontal diplopia underwent simultaneous surgery on other extraocular muscles. RESULTS: Five patients were studied. Mean age was 60 ± 8 years (47-67). Mean postoperative follow-up was 10 ± 8 months (3-21). The mean preoperative torsion of 11º±4º (7º-15º) significantly decreased to 3º±2º (p = .03) at the first postoperative visit (16 ± 9 days) and 3 ± 2º during the last visit (P = .03). The procedure corrected 1.4º±0.9º per mm of tuck. Postoperatively no patient complained of torsion. No undesirable vertical or horizontal deviations were noted. CONCLUSION: This technique is a simple alternative to manage symptomatic excyclotorsion, with significant and stable relief of moderate amounts of torsion and without inducing unexpected vertical or horizontal deviation.

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.

We report the case of a 23-month-old girl with bilateral retinoblastoma that demonstrated absence of retinal lesions in one eye but had an isolated white tumor in the posterior chamber. Genetic testing confirmed a novel and de novo RB1 germline mutation in the proband that was not carried by her parents. After intravenous chemotherapy and brachytherapy to the eye with apparently disease-free retina, anatomic and functional preservation of the eye was achieved. The patient has been in remission for 18 months.

Mycophenolate Mofetil Therapy in Refractory Inflammatory Eye Disease.

PURPOSE: To study the efficacy and incidence of treatment-related side effects of mycophenolate mofetil (MMF) therapy in patients with noninfectious inflammatory eye diseases. METHODS: Retrospective cohort study of 27 Chilean patients treated for noninfectious inflammatory eye diseases using MMF therapy over a 10-year period. Main outcome measures were: ability to control ocular inflammation and to taper prednisone to ≤10 mg daily (treatment success); incidence of treatment-related side effects. RESULTS: The proportion of patients with sustained control of inflammation was 81.48% at 6 months. Additionally 55.56% and 22.22% of patients succeeded in tapering their prednisone to 5-10 mg/day and <5 mg/day, at 6 months. Two patients developed a neoplasia during MMF therapy; however, this cohort is too small to interpret the significance of this relation to MMF treatment. CONCLUSIONS: MMF seems to be an effective corticosteroid-sparing agent with an acceptable safety profile.

Tumores selares: grosor de la capa de fibras nerviosas en tomografía de coherencia óptica de papila como factor pronóstico de recuperación visual postoperatoria / Sellar tumors: peripapillary retinal nerve fiber layer thickness on optical coherence tomography as prognosis of postoperatory visual recovery

Purpose: To establish the prognostic value of the retinal nerve fiber layer thickness measured at Optical Coherence Tomography (OCT) as a predictor of visual function posterior to resection of sellar tumors. Material and Methods: Descriptive, retrospective study in patients undergoing microscopic transsphenoidal resection of sellar tumors with preoperative ophthalmologic evaluation (evaluation by specialist, 24-2 Sita Standard visual field (24-2 SS VF) and optic nerve head Stratus OCT) and postoperative (evaluation by specialist and 24-2 SS VF). Minimum follow-up was 3 months. For statistical analysis, Spearman and Pearson's Correlation Coefficient and linear regression was used. Results: A total of 18 patients were included. In the preoperative evaluation, patients had logMAR average Snellen visual acuity (VA) of 0.70 (0.15 logMAR, 0-4.0), an average mean deviation (MD) of -9.25 dB (0.4 to -30.4 dB) and a average retinal nerve fiber layer thickness of 83.7 microns (45.24 to 115.37). Postoperative evaluation of patients showed an Snellenaverage VA of 0.78 (0.1 logMAR, 0-1.3) and MD of 5.58 dB (2.31 -32.39 dB). A positive correlation (r = 0.51) between average retinal nerve fiber layer thickness and postoperative MD, less probably to improved in VF and VA with thicknesses below 80 microns. Conclusion: A nerve fiber layer thickness on optic nerve head Stratus OCT below 80 microns correlated with poorer visual function improvement in patients undergoing transsphenoidal resection surgery of sellar tumors.

Propósito: Establecer el valor pronóstico del grosor peripapilar de la capa de fibras de las células ganglionares (CFCG) cuantificado a la Tomografía de Coherencia Óptica (OCT) como factor pronóstico visual posterior a la resección de tumores selares. Material y Método: Estudio descriptivo, retrospectivo en pacientes sometidos a resección transesfenoidal microscópica de tumores selares con evaluación oftalmológica preoperatoria (evaluación por especialista, campo visual 24 Sita Standard (CV 24-2 SS) y OCT Stratus de papila) y postoperatoria (evaluación por especialista y CV 24-2 SS). El seguimiento mínimo fue de 3 meses. Para el análisis estadístico se utilizó el coeficiente de correlación de Pearson y Spearman, y regresión lineal. Resultados principales: Se incluyó un total de 18 pacientes. En la evaluación prequirúrgica los pacientes presentaron agudeza visual (AV) promedio de 0,70 en Snellen (0,15 en logMAR, rango 0-4 logMAR), una desviación media (DM) promedio de -9,25 dB (0,4 a -30,4 dB) y un grosor de CFCG de 83.7 μm promedio (45,24 a 115,37 μm). En la evaluación postoperatoria los pacientes presentaron AVpromedio de 0,78 Snellen (0,1 logMAR, rango 0-1,3) y una DMpromedio de -5,58 dB (2,31, -32,39 dB). Se encontró una correlación positiva (r2 = 0,51) entre el grosor de CFCG y la DM postoperatoria, con tendencia a la menor mejoría del CV y AV con grosores bajo 80 μm. Conclusión: Una capa de fibras nerviosas bajo 80 μm al OCT Stratus se correlacionó con menor mejoría visual postoperatoria en pacientes sometidos a cirugia transesfenoidal de tumores selares.

Comparison of the clinical efficacy of two different immunosuppressive regimens in patients with chronic vogt-koyanagi-harada disease.

PURPOSE: To prospectively compare 2 immunosupressive regimens in patients with active Vogt-Koyanagi-Harada disease in spite of systemic glucocorticoid treatment. METHODS: Forty-four patients were diagnosed between 1998 and 2005. Twenty-one developed chronic intraocular inflammation in spite of glucocorticoid treatment and were randomized to receive either prednisone and azathioprine (AZA) (n = 12) or prednisone and cyclosporine (CyA) (n = 9). RESULTS: In the AZA group Tyndall score decreased from 1.21 +/- 1.10 to 0.29 +/- 0.62 (p < .01), and visual acuity (LogMAR) improved from 0.32 +/- 0.35 to 0.09 +/- 0.16 (p < .001). In the CyA group Tyndall score decreased from 1.67 +/- 1.08 to 0.16 +/- 0.51 (p < .001), and visual acuity improved from 0.41 +/- 0.40 to 0.25 +/- 0.42 (p < .001). Patients in the AZA group needed a significantly higher average prednisone dose and total cumulative dose than those in the CyA group, p < .01 for each comparison. CONCLUSIONS: Both regimens showed a good clinical efficacy, but CyA seems to be a better glucocorticoid-sparing agent than AZA.

Neuritis óptica atípica en un adulto joven: un desafío diagnóstico / Atypical optic neuritis in a young adult: a diagnostic challenge

Optic neuritis is an inflammatory disease of the optic nerve and is classified into typical and atypical: the first, may be associated with diagnostic or future risk of developing multiple sclerosis (MS). However, the differential diagnosis is extensive and prognosis and treatment depend on the cause. The purpose of this paper is to present a case of demyelinating optic neuritis and discuss the diagnosis step confrontation.

La neuritis óptica es una enfermedad inflamatoria del nervio óptico y se clasifica en típica y atípica: la primera, se puede asociar al diagnóstico o riesgo futuro de desarrollo de esclerosis múltiple (EM). Sin embargo, el diagnóstico diferencial es extenso y el tratamiento y pronóstico dependen de la causa. El propósito del presente trabajo es presentar un caso clínico sobre neuritis óptica desmielinizante y discutir paso a paso el enfrentamiento diagnóstico.

[Retrospective review of 44 Chilean patients with Behçet disease]. / Enfermedad de Behçet en Chile: Análisis clínico de 44 casos.

BACKGROUND: Behçet's disease (BD) is a rare multisystemic inflammatory disease that is potentially disabling and may cause death. AIM: To describe the characteristics of BD patients from two Chilean centers. PATIENTS AND METHOD: Retrospective review of the clinical records of patients with BD attended in two rheumatology services between 1985 and 2007. The "Behçet's Disease Research Committee of Japan" (BDCJ) and the "International Study Group for Behçet's Disease" (ISG) diagnostic criteria were applied. RESULTS: We found 44 cases (25 males), diagnosed as BD. The mean age at the onset of symptoms was 26+/- 12 years. According to BDCJ criteria, 13 patients had complete BD, 24 had incomplete BD and 7 had a suspected BD. Thirty two patients fulfilled the ISG criteria. Forty two patients (95%) had oral ulcers, 33 (75%) had genital ulcers and 29 (66%) had ophthalmological involvement. Eleven and three patients had symptoms of central and peripheral nervous system involvement, respectively. No gender differences were detected. CONCLUSIONS: The clinical characteristics of these patients were similar to those described abroad, except for a higher frequency of peripheral nervous system involvement and a lower rate of arthritis.

Queratoconjuntivitis por adenovirus generadas a partir de una consulta oftalmológica / Adenovirus keratoconjunctivitis acquired in an ophtalmology clinic

Introduction: Eye infection is a common cause of ophtalmologic consultation. Adenovirus keratoconjunctivitis outbreaks are common worldwide but its impact and clinical characteristic in Chilean population is unkown. Objective: To describe a series of adenovirus keratoconjunctivitis cases. Patients and Method: The Índex case and contacts received medical care in the Hospital Clínico Universidad de Chile between April and August 2006. A complete ophthalmologic exam and microbiologic evaluation was performed. Results: Nine patients presented a pattern of characteristic epidemic keratoconjunctivitis. In x cases sub-corneal epithelial infiltrates were observed for a period of more than six months. Three affected patients were ophtalmologists, staff at the Hospital. In seven patients ADV was isolated all bellonging to type D genus. Conclusions: Adenovirus type D caused epidemic keratoconjunctivitis in a series of Chilean individuals. Ophthalmologist may have transmitted the virus to patients.

Introducción: La patología ocular infecciosa es frecuente en la consulta oftalmológica, especialmente la conjuntivitis y queratoconjuntivitis epidémica (QCE). Brotes de esta patología son causados por adenovirus (ADV) en el extranjero; en Chile se desconoce su impacto y características. Objetivos: Describir una serie de casos de queratonconjuntivitis epidémica por adenovirus. Material y Pacientes: Al caso índice y los contactos de una serie de casos de QCE por ADV que consultaron en el Hospital Clínico de la Universidad de Chile, entre abril y agosto de 2006, se les realizó examen oftalmológico completo y estudio de ADV por aislamiento viral, detección de antígenos y de genoma viral. Se estableció el género de ADV mediante reacción de polimerasa en cadena. Resultados: Los 9 pacientes infectados presentaron QCE característica. En algunos casos se observaron infiltrados sub-epiteliales corneales que se extendieron por más de seis meses. Tres pacientes eran médicos oftalmólogos. En 7 de los 9 pacientes examinados se aisló ADV; todos del género D. Conclusiones: En Chile, la QCE puede ser causada por el subgénero tipo D. El médico oftalmólogo es un potencial vector en la transmisión de ADV en un brote de QCE, por lo que es fundamental que sea considerado en las estrategias de prevención de esta patología.

Enfermedad de Behçet en Chile: Análisis clínico de 44 casos / Retrospective review of 44: Chilean patients with Behçet disease

Background: Behget's disease (BD) is a rare multisystemic inflammatory disease that is potentially disabling and may cause death. Aim: To describe the characteristics of BD patients from two Chilean centers. Patients and method: Retrospective review of the clinical records of patients with BD attended in two rheumatology services between 1985 and 2007. The "Behget's Disease Research Committee of Japan" (BDCJ) and the "International Study Group for Behget's Disease" (ISG) diagnostic criteria were applied. Results: We found 44 cases (25 males), diagnosed as BD. The mean age at the onset of symptoms was 26± 12 years. According to BDCJ criteria, 13 patients had complete BD, 24 had incomplete BD and 7 had a suspected BD. Thirty two patients fulfilled the ISG criteria. Forty two patients (95 percent) had oral ulcers, 33 (75 percent) had genital ulcers and 29 (66 percent) had ophthalmological involvement. Eleven and three patients had symptoms of central and peripheral nervous system involvement, respectively. No gender differences were detected. Conclusions: The clinical characteristics of these patients were similar to those described abroad, except for a higher frequency of peripheral nervous system involvement and a lower rate of arthritis.

Manejo y fibrilación auricular en el postoperatorio de cirugía cardiaca / Management and evolution of atrial fibrillation in the postoperative cardiac surgery

Introduction: postoperative atrial fibrillation (POAF) is the most frequent arrhythmia in patients that undergo a cardiac surgery. POAF’s prevalence ranges from 10 to 65 percent. Most initial episodes of POAF occurred within the first few days alter cardiac surgery. The prevention of POAF is well known but there are no guidelines and no randomized clinical trial that have evaluated the acute management of the arrhythmia. The aim of this restrospective study was to know themanagement and intrahospital evolution of patients with POAF in our institution. Main results: among 426 patients undergoing a cardiac surgery, the incidence of POAF was 10 percent. We analyzed only 27 patients of the 42 with POAF. Five patients spontaneously restored sinus rhythm (SR) and in the others, the first approach to the management was with betablockers in 15 patients (70 percent). To restore SR, the treatment of choice was pharmacological, only with amiodarone, with 70 percent of conversion to SR. Only three patients needed direct current cardioversion to restore SR. At discharge 5 patients were in AF. Conclusion: the management and evolution of patients with POAF in our institution is similar than reported experiences. The initial treatment is to achieve rate control mainly with betablockers. To restore SR the drug of choice is amiodarone with an efficacy of 70 percent. In the minority of our patients direct current cardioversion was necessary to recover SR. Nearly 19 percent of POAF patients were discharged on AF and 44 percent with antiarrhythmic drugs.

Fibrilación auricular en el postoperatorio de cirugía cardiaca: factores de riesgo y morbimortalidad / Postoperative atrial fibrillation of cardiac surgery: risk factors and morbid-mortality

Introduction: postoperative atrial fibrillation (POAF) is the most frequent arrhythmia observed in patients undergoing a cardiac surgery. The worldwide incidence is 30 to 65 percent of cardiac surgery procedures, and is more frequent in patients undergoing a cardiac valve surgery. This arrhyhtmia implies an increment in the lenght and in the total costs of hospitalization, and is associated with serious adverse events like stroke, bleeding and death. The aim of this study was to know the incidence, risk factors, morbidity and mortality associated with POAF in our institution during one year. Main results: we analyze 321 patients that undergone a cardiac surgery during 2003. The incidence of POAF was 6,7 percent and the risk factors associated were the use of cold crystalloid cardioplegia (p < 0,05) and dyslipidemia (p < 0,05). Also, the left ventricle end diastolic diameter was larger but not significant (p = 0,053) in patients with POAF in comparison with patients without POAF. POAF results in an increment of the costs and the lenght of hospitalization. There was no mortality attributed to this arrhythmia in our patients. Conclusion: in this retrospective analysis of patients undergoing cardiac surgery there was a lower incidence of POAF in comparison with other series. The risk factors in this population of patients were the use of cold crystalloid cardioplegia and dyslipidemia. Although this arrhythmiawas associated with more days of hospitalization, there were no difference in mortality between patients with POAF and patients without POAF.