Ocular findings in Fabry disease in Colombian patients / Manifestaciones oculares de la enfermedad de Fabry en pacientes colombianos

ABSTRACT Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.

RESUMEN La enfermedad de Fabry es un raro trastorno ligado al cromosoma X causado por deficiencia de la enzima alfa-galactosidasa y la consiguiente y progresiva acumulación lisosómica de glucoesfingolípidos, especialmente la globotriaosilceramida, en múltiples tejidos del organismo, incluido el ojo. En este reporte se presenta la primera serie de casos de manifestaciones oculares de la enfermedad de Fabry en Colombia, resaltando la importancia de los signos oculares como ayuda para el diagnóstico temprano. Se presentan cinco casos de la enfermedad en Bogotá y se da cuenta de las historias clínicas y los exámenes oftalmológicos y de optometría, y se incluyen fotografías. En todos los pacientes se hallaron errores de refracción y se evidenció el patrón de córnea verticillata. Cuatro pacientes presentaban depósitos de color café y castaño claro en la cápsula posterior del cristalino, y cuatro tenían tortuosidad vascular conjuntival y retiniana. El examen oftalmológico completo es importante para hacer un diagnóstico oportuno con el fin de iniciar el tratamiento multidisciplinario y reducir la morbimortalidad.

Perfil epidemiológico dos pacientes atendidos com queixa de olho vermelho na Fundação Hilton Rocha, MG, Brazil / Epidemiological profile of patients with red eye complain treated at Fundação Hilton Rocha, MG, Brazil

RESUMO Objetivo: Determinar os fatores epidemiológicos e analisar as principais causas etiológicas dos pacientes atendidos com queixa de olho vermelho no setor de urgência e emergência de um hospital oftalmológico de ensino do estado de Minas Gerais. Métodos: Foi realizado um estudo de prevalência observacional, analítico com amostra não probabilística formado pelos pacientes que compareceram no setor de urgência da Fundação Hilton Rocha nos meses de janeiro a abril de 2014 (n=1140). Foram analisadas as seguintes variáveis: gênero, idade, raça, profissão, escolaridade, renda, meio de transporte, tempo decorrido entre o sintoma inicial e o primeiro atendimento, dia da semana, presença de baixa da acuidade visual e diagnóstico. Resultados: A amostra apresentou 390 pacientes com queixa de olho vermelho, 57,4% (n=224) eram do sexo feminino, a idade variou entre 3 e 97 anos, sendo a média de 43,7 anos. A maioria dos pacientes (87,6%, n=341) procurou o serviço em até 14 dias do início dos sintomas e apenas 75 indivíduos (19,4%) apresentavam baixa acuidade visual. As classes econômicas inferiores (classes D e E) são predominantes entre os atendidos. A principal causa da queixa de olho vermelho foi conjuntivite e blefaroconjuntivite infecciosas (32,6%, n=127). Conclusão: A conjuntivite infecciosa foi a morbidade de maior incidência. A Fundação Hilton Rocha desempenha um papel importante no atendimento à urgência oftalmológica da rede pública de Minas Gerais, sendo importante identificar as principais causas de atendimento e ampliar os estudos epidemiológicos e sociais, a fim de melhorar o acesso da população às urgências oftalmológicas e nos dar subsídios para campanhas de orientação, voltadas principalmente para as classes sociais menos favorecidas.

ABSTRACT Objective: Determining the epidemiological factors and analyzing the main etiological causes of the patients treated with red-eye complaint at the urgency and emergency sector of the ophthalmological hospital in the state of Minas Gerais. Methods: A prevalence observational analytical study was performed with a non-probabilistic sample formed by patients who visited the emergency room of the Fundação Hilton Rocha Hospital from january to april 2014 (n=1140). The following variables investigated were: gender, age, race, profession, education, income, means of transportation, time elapsed between the first symptom and the first visit, day of the week, low visual acuity symptom, diagnosis and treatment. Results: Out of the sample of 390 patients with red eye complaint, 57.4 % (n= 224) were female and the age ranged from 3 to 97, with an average of 43.7 years of age. The majority of patients, 87.6% (n= 341) sought the service up to 14 days after the onset of symptoms, only 75 individuals (19.4 %) had low visual acuity. The lower economic classes (classes D and E) are prevalent among patients. The main cause of red eye complain was conjunctivitis and infectious blepharoconjunctivitis 32.6% (n= 127). Conclusion: Infectious conjunctivitis was the morbidity with the highest incidence. The Fundação Hilton Rocha plays an important role in providing urgent ophthalmological care in the public health network in Minas Gerais. It is important to identify the most frequent causes of medical service for ocular diseases and expand the epidemiological and social studies in order to improve people’s access to ophthalmic emergencies and give us subsidies for guidance campaigns, focused mainly on the lower social classes.

Ranibizumab Injection for Corneal Neovascularization Refractory to Bevacizumab Treatment

Vascular endothelial growth factor inhibitor is an emerging therapeutic modality for various ocular diseases with neovascularization (NV). However, for corneal NV, controversy remains regarding whether bevacizumab or ranibizumab is superior. A 32-year-old female diagnosed with herpetic keratoconjunctivitis with refractory corneal NV despite two previous subconjunctival and intrastromal bevacizumab injections, received two subconjunctival and intrastromal ranibizumab injections. Six months postoperatively, there was significant regression of the neovascular area and vessel caliber. Here, the authors report a case of improvement in corneal NV with subconjunctival and intrastromal ranibizumab injections, which was previously refractory to bevacizumab injection. The findings may suggest a new prospect in treating corneal NV.

Increased Intraocular Pressure after Extensive Conjunctival Removal: A Case Report

A 50-year-old woman, who had undergone extensive removal of conjunctiva on the right eye for cosmetic purposes at a local clinic 8 months prior to presentation, was referred for uncontrolled intraocular pressure (IOP) elevation (up to 38 mmHg) despite maximal medical treatment. The superior and inferior conjunctival and episcleral vessels were severely engorged and the nasal and temporal bulbar conjunctival areas were covered with an avascular epithelium. Gonioscopic examination revealed an open angle with Schlemm's canal filled with blood to 360 degrees in the right eye. Brain and orbital magnetic resonance imaging and angiography results were normal. With the maximum tolerable anti-glaucoma medications, the IOP gradually decreased to 25 mmHg over 4 months of treatment. Extensive removal of conjunctiva and Tenon's capsule, leaving bare sclera, may lead to an elevation of the episcleral venous pressure because intrascleral and episcleral veins may no longer drain properly due to a lack of connection to Tenon's capsule and the conjunctival vasculature. This rare case suggests one possible mechanism of secondary glaucoma following ocular surgery.

Increased Intraocular Pressure after Extensive Conjunctival Removal: A Case Report

A 50-year-old woman, who had undergone extensive removal of conjunctiva on the right eye for cosmetic purposes at a local clinic 8 months prior to presentation, was referred for uncontrolled intraocular pressure (IOP) elevation (up to 38 mmHg) despite maximal medical treatment. The superior and inferior conjunctival and episcleral vessels were severely engorged and the nasal and temporal bulbar conjunctival areas were covered with an avascular epithelium. Gonioscopic examination revealed an open angle with Schlemm's canal filled with blood to 360 degrees in the right eye. Brain and orbital magnetic resonance imaging and angiography results were normal. With the maximum tolerable anti-glaucoma medications, the IOP gradually decreased to 25 mmHg over 4 months of treatment. Extensive removal of conjunctiva and Tenon's capsule, leaving bare sclera, may lead to an elevation of the episcleral venous pressure because intrascleral and episcleral veins may no longer drain properly due to a lack of connection to Tenon's capsule and the conjunctival vasculature. This rare case suggests one possible mechanism of secondary glaucoma following ocular surgery.

Efficacy of bimatoprost 0.03% in reducing intraocular pressure in patients with 360° synechial angle-closure glaucoma: A preliminary study.

Context: Peripheral anterior synechiae (PAS; synechiae anterior to functional trabecular meshwork) formation in primary angle-closure glaucoma (PACG) hampers access to uveoscleral outflow. Thus, the role of bimatoprost in such patients with 360° synechiae was evaluated. Aims: To assess efficacy and safety profile of bimatoprost 0.03% in lowering intraocular pressure (IOP) in 360° synechial angle-closure glaucoma patients. Settings and Design: This was a prospective, non-randomized, non-comparative, selective analysis, single-center pilot study. Materials and Methods: A total of 23 eyes of 20 Indian chronic angle-closure glaucoma (CACG) patients with IOP greater than 21 mmHg, 360° PAS and no visual potential in the study eye underwent detailed eye examination. Baseline IOP was measured and YAG peripheral iridotomy was performed for complete angle-closure reconfirmation. Bimatoprost 0.03% was administered for 8 weeks as once-daily evening dose. IOP reduction within treatment group was determined with “paired t-test”. Results: The mean reduction in IOP from baseline to 8 weeks of bimatoprost therapy was 15.3 ± 9.5 mmHg (P < 0.001). The most commonly observed adverse event was conjunctival hyperemia (35%). Bimatoprost was well tolerated in the study. Conclusions: In this study, exclusively involving patients with 360° synechial angle-closure glaucoma and no visual potential, bimatoprost 0.03% treatment demonstrated a statistically significant IOP reduction. Hence, it can be inferred that bimatoprost 0.03% is an efficacious treatment modality in this subgroup of patients for reducing IOP.