Ocular Manifestations in Patients with Fanconi Anemia: A Single-Center Experience Including 106 Patients.

OBJECTIVES: To describe the prevalence of acquired ocular manifestations in patients with Fanconi anemia (FA) and to describe and correlate the congenital ocular malformations with the genetic subtypes of the disease. STUDY DESIGN: This is a cross-sectional observational study of 106 consecutive patients with confirmed diagnosis of FA who were followed at the Hematopoietic Stem Cell Transplantation (HSCT) Service at the Federal University of Paraná, Curitiba, Parana, Brazil. Participants underwent a complete ophthalmologic evaluation and 84 patients underwent ocular ultrasound examination. This study was conducted between November 2014 and August 2017. RESULTS: The patients ranged in age from 6 months to 43 years of age. Microphthalmia was the most common congenital ocular abnormality (95.2%). A decrease in anthropometric measurements was observed, including palpebral fissure length (78/103 patients [76.5%]), microcornea (48/103 patients [46.6%]), and ptosis (31/103 patients [30.1%]). We identified a new ophthalmic condition in 15 patients with FA, that is, epiretinal tissue on the optic disc. The genetic subtype was identified in 78 patients (79.6%), the FA-A subtype was most prevalent (50%). The most common acquired ocular manifestation (non-graft-versus-host disease [GVHD] related) in patients who did not undergo HSCT (n = 44) was limbal neovascularization (13.6%), whereas in patients who underwent HSCT (n = 62), the GVHD-related manifestation was ocular GVHD (51.6%). The most frequent symptom of ocular GVHD was keratoconjunctivitis sicca (29%). CONCLUSIONS: Several ocular manifestations were identified in patients with FA.

Circulating levels of mannose-binding lectin (MBL) in age-related macular degeneration.

PURPOSE: To assess whether the serum levels of mannose-binding lectin of the lectin complement pathway are associated with age-related macular degeneration. METHODS: Patients with age-related macular degeneration and age-matched controls underwent full ophthalmologic examination and optical coherence tomography. Using a time-resolved immunofluorometric assay, blood samples were evaluated to determine the serum mannose-binding lectin levels. RESULTS: A total of 136 individuals were evaluated, including 68 patients with age-related macular degeneration (34 exudative and 34 nonexudative) and 68 age-matched controls. The median mannose-binding lectin level was 608 ng/mL (range, 30-3,415 ng/mL) in patients with age-related macular degeneration and 739 ng/mL (range, 30-6,039 ng/mL) in controls, with no difference between the groups. Additionally, the median mannose-binding lectin level was 476 ng/mL (range, 30-3,415 ng/mL) in exudative cases and 692 ng/mL (range, 30-2,587 ng/mL) in nonexudative cases. CONCLUSIONS: Serum mannose-binding lectin levels were not associated with age-related macular degeneration or with the exudative and nonexudative forms of the disease.

Circulating levels of mannose-binding lectin (MBL) in age-related macular degeneration / Níveis circulantes da lectina ligadora de manose (MBL) na degeneração macular relacionada à idade

ABSTRACT Purpose: To assess whether the serum levels of mannose-binding lectin of the lectin complement pathway are associated with age-related macular degeneration. Methods: Patients with age-related macular degeneration and age-matched controls underwent full ophthalmologic examination and optical coherence tomography. Using a time-resolved immunofluorometric assay, blood samples were evaluated to determine the serum mannose-binding lectin levels. Results: A total of 136 individuals were evaluated, including 68 patients with age-related macular degeneration (34 exudative and 34 nonexudative) and 68 age-matched controls. The median mannose-binding lectin level was 608 ng/mL (range, 30-3,415 ng/mL) in patients with age-related macular degeneration and 739 ng/mL (range, 30-6,039 ng/mL) in controls, with no difference between the groups. Additionally, the median mannose-binding lectin level was 476 ng/mL (range, 30-3,415 ng/mL) in exudative cases and 692 ng/mL (range, 30-2,587 ng/mL) in nonexudative cases. Conclusions: Serum mannose-binding lectin levels were not associated with age-related macular degeneration or with the exudative and nonexudative forms of the disease.

RESUMO Objetivos: Avaliar se as concentrações séricas da lectina ligante de manose da via das lectinas do sistema complemento estão associadas à degeneração macular relacionada à idade. Métodos: Pacientes com degeneração macular relacionada à idade a controles pareados realizaram exame oftalmológico completo e imagens de tomografia de coerência óptica. As concentrações de lectina ligante de manose foram aferidas em amostras de sangue pelo método "time-resolved Immunofluorometric assay". Resultados: Um total de 136 indivíduos foram avaliados incluindo 68 com degeneração macular relacionada à idade (34 exsudativa e 34 não-exsudativa) e 68 controles. Concentrações medianas de lectina ligante de ma-nose foram 608 ng/mL (30-3,415 ng/mL) nos casos e 739 ng/mL (30-6,039 ng/mL) nos controles, não havendo diferença entre os grupos. Comparando degeneração macular relacionada a idade exsudativa (mediana de lectina ligante de manose 476 ng/mL; 30-3,415 ng/mL) e não-exsudativa (692 ng/mL; 30-2,587 ng/mL) também não apresentaram diferença. Conclusões: Concentrações séricas de lectina ligante de manose não estão relacionadas à degeneração macular relacionada a idade ou às formas exsudativa e não-exsudativa.

Epidemiological profile of age-related macular degeneration patients in Federal University of Parana, Brazil / Perfil epidemiológico da degeneração macular relacionada à idade na Universidade Federal do Paraná, Brasil

ABSTRACT Objective: To evaluate the profile and severity of age-related macular degeneration (AMD) in ophthalmology ambulatory of Federal University of Parana in Curitiba, Parana, Brazil. Methods: This was a cross-sectional study with data collected among the 6155 outpatients ophthalmic appointments (november 2011 to november 2013). In this 6155 patients, a total of 346 patients had retinal diseases and were screened by two retinal specialists for signs of AMD. If present, they were submitted to a protocol including a new ophthalmic evaluation comprising visual acuity, tonometry, biomicroscopy, dilated fundus examination and optical coherence tomography (OCT). Results: A total of 6155 patients underwent ophthalmologic evaluation for several reasons. Three hundred and forty six patients had retinal diseases (incidence of 5.6%) and 68 of these (incidence of 19.6% in retinal patients) had AMD. The mean age of all patients was 53 years and in retinal patients was 60 years. In AMD patients mean age was 73 years. Ethnicity, body-mass index (BMI) and smoking habits were evaluated in the 68 patients diagnosed with AMD (34 exudative and 34 non-exudative) but none of those parameters were statistically significant comparing exudative and non-exudative forms. Conclusion: Most of the patients were European descendants. A higher proportion of advanced cases of AMD comparing with literature was found (50% of exudative form). Regarding ethnicity, iris color, smoking habit and BMI, there was no difference comparing exudative and non-exudative forms. These results may be compared to available AMD studies, since there is little information about AMD in Brazil.

RESUMO Objetivo: Avaliar o perfil epidemiológico e severidade da degeneração macular relacionada à idade (DMRI) no ambulatório de oftalmologia da Universidade Federal do Paraná (UFPR) em Curitiba, Paraná, Brasil. Métodos: Estudo transversal com dados coletados referentes as 6155 consultas oftalmológicas realizadas no período de novembro de 2011 a novembro de 2013. Destes, 346 pacientes possuíam doenças retinianas e foram avaliados por dois especialistas em retina à procura de sinais de DMRI. Os confirmados foram submetidos a um protocolo compreendendo acuidade visual, tonometria, biomicroscopia, oftalmoscopia indireta sob midríase e tomografia de coerência óptica (OCT). Resultados: Um total de 6155 pacientes foram submetidos à consulta oftalmológica na UFPR. Trezentos e quarenta e seis pacientes apresentaram doenças retinianas (incidência de 5.6%) e 68 destes (incidência de 19.6% dos pacientes com doenças de retina) apresentaram DMRI. A média de idade dos pacientes do ambulatório geral foi de 53 anos e em pacientes com doenças de retina foi de 60 anos. Pacientes com DMRI tinham em média 73 anos. Etnia, cor da íris, índice de massa corpórea (IMC) e tabagismo foram avaliados nos 68 pacientes diagnosticados com DMRI (34 exsudativa e 34 não exsudativa), mas nenhum dos parâmetros foram estatisticamente significantes. Conclusão: A maioria dos pacientes eram de origem europeia. Comparando com a literatura, uma maior proporção de casos avançados de DMRI (50% de forma exsudativa) foi encontrada. Em relação à etnia, tabagismo e IMC, não houve diferença entre pacientes com forma exsudativa e não exsudativa. Estes resultados podem ser comparados com estudos disponíveis, considerando a pouca informação referente a DMRI existente no Brasil.

A comparison study of corneal topographic changes following 20-, 23-, and 25-G pars plana vitrectomy.

PURPOSE: To evaluate and compare corneal topographic changes following pars plana vitrectomy with the 23-gauge (G) and 25-G transconjuntival sutureless vitrectomy system as well as the standard 20-G vitrectomy system. METHODS: We prospectively evaluated corneal topographic changes in 45 eyes of 45 patients divided into three groups according to vitrectomy system used (20-, 23-, and 25-G). All patients underwent computer-assisted videokeratography using an EyeSys System 3000 topographer preoperatively and at one week, one month, and three months postoperatively. RESULTS: In the 20-G vitrectomy group, we found statistically significant postoperative changes in corneal curvature parameters with an average steepening of 0.98 ± 0.18 D (P<0.001) and 0.93 ± 0.21 D (P<0.001) at one week and one month, respectively. No statistically significant difference was observed at the three-month follow-up visit. In the 23- and 25-G groups, no statistically significant changes in corneal curvature parameters were observed at any postoperative follow-up visit. CONCLUSION: Twenty-three-gauge and 25-gauge transconjunctival sutureless vitrectomy did not induce topographic corneal changes following surgery, whereas 20-G vitrectomy was found to induce transient topographic corneal changes that had returned to preoperative levels at three months postoperatively.

A comparison study of corneal topographic changes following 20-, 23-, and 25-G pars plana vitrectomy / Um estudo comparativo das alterações topográficas da cornea após a vitrectomia via pars plana com 20, 23 e 25 gauge

ABSTRACTPurpose:To evaluate and compare corneal topographic changes following pars plana vitrectomy with the 23-gauge (G) and 25-G transconjuntival sutureless vitrectomy system as well as the standard 20-G vitrectomy system.Methods:We prospectively evaluated corneal topographic changes in 45 eyes of 45 patients divided into three groups according to vitrectomy system used (20-, 23-, and 25-G). All patients underwent computer-assisted videokeratography using an EyeSys System 3000 topographer preoperatively and at one week, one month, and three months postoperatively.Results:In the 20-G vitrectomy group, we found statistically significant postoperative changes in corneal curvature parameters with an average steepening of 0.98 ± 0.18 D (P<0.001) and 0.93 ± 0.21 D (P<0.001) at one week and one month, respectively. No statistically significant difference was observed at the three-month follow-up visit. In the 23- and 25-G groups, no statistically significant changes in corneal curvature parameters were observed at any postoperative follow-up visit.Conclusion:Twenty-three-gauge and 25-gauge transconjunctival sutureless vitrectomy did not induce topographic corneal changes following surgery, whereas 20-G vitrectomy was found to induce transient topographic corneal changes that had returned to preoperative levels at three months postoperatively.

RESUMOObjetivos:Avaliar e comparar as alterações topográficas da córnea após a vitrectomia via pars plana com o sistema transconjuntival sem suturas de 23 gauge (g) e 25 g e com o sistema tradicional de vitrectomia via pars plana 20 g.Método:Neste estudo prospectivo, as alterações topográficas da córnea foram avaliadas em 45 olhos de 45 pacientes, divididos em 3 grupos de acordo com o sistema de vitrectomia utilizado (20, 23 e 25 g). Todos os pacientes foram submetidos a topografia corneana computadorizada utilizando-se o topógrafo EyeSys System 3000 antes da cirurgia, e com 1 semana, 1 mês e 3 meses após a cirurgia.Resultados:No período pós-operatório, no grupo de vitrectomia 20 g, foram encontradas alterações estatisticamente significativas nos parâmetros da curvatura corneana estudados, com um aumento médio da curvatura de 0,98 ± 0,18 D (p<0,001) e 0,93 ± 0,21D (p<0,001) após uma semana, e um mês, respectivamente. Não se observou diferença estatisticamente significativa na visita realizada 3 meses após a cirurgia. Nos grupos 23 g e 25 g, não se observaram alterações estatisticamente significativas nos parâmetros da curvatura corneana em nenhum dos momentos analisados no pós-operatório.Conclusão:A vitrectomia transconjuntival sem suturas 23 g e 25 g não induziu alterações topográficas da córnea após a cirurgia, enquanto que a vitrectomia 20 g induziu alterações topográficas da córnea transitórias que retornaram aos níveis pré-operatórios três meses após a cirurgia.

Results of pars plana vitrectomy after complicated phacoemulsification surgery.

PURPOSE: To identify the causes and outcomes of pars plana vitrectomy (PPV) in patients undergoing phacoemulsification with intraoperative complication and to analyze whether the interval between phacoemulsification and PPV interferes with best-corrected final visual acuity. METHODS: This descriptive and retrospective analytical study was conducted in Paraná Eye Hospital in 2013. Data were collected from medical records of 38 patients who underwent complicated phacoemulsification and also required PPV. RESULTS: The most frequent complication as a result of phacoemulsification was posterior capsule rupture, observed in 35 patients (92.10%), followed by capsular bag detachment, in three patients (7.89%). Twenty-eight patients (73.68%) had cortical fragments that were removed during PPV. Twelve patients (31.57%) had their intraocular lens repositioned. PPV was performed on the same day of phacoemulsification in one patient (2.63%), within 1 week in 15 patients (39.47%), between 1 week and 1 month in 13 patients (34.21%), and 1 month after phacoemulsification in 9 patients (23.68%). CONCLUSION: This study is in agreement with worldwide literature, asserting that major complications of phacoemulsification are posterior capsule rupture and capsular bag detachment, and in addition, there is an improvement in the final visual acuity in almost half the cases, even when there are complications during modern cataract surgery, when complementary appropriate treatment is provided.

Results of pars plana vitrectomy after complicated phacoemulsification surgery / Resultados pós-vitrectomia via pars plana em pacientes submetidos à cirurgia de facoemulsificação com complicação intraoperatória

Purpose: To identify the causes and outcomes of pars plana vitrectomy (PPV) in patients undergoing phacoemulsification with intraoperative complication and to analyze whether the interval between phacoemulsification and PPV interferes with best-corrected final visual acuity. Methods: This descriptive and retrospective analytical study was conducted in Paraná Eye Hospital in 2013. Data were collected from medical records of 38 patients who underwent complicated phacoemulsification and also required PPV. Results: The most frequent complication as a result of phacoemulsification was posterior capsule rupture, observed in 35 patients (92.10%), followed by capsular bag detachment, in three patients (7.89%). Twenty-eight patients (73.68%) had cortical fragments that were removed during PPV. Twelve patients (31.57%) had their intraocular lens repositioned. PPV was performed on the same day of phacoemulsification in one patient (2.63%), within 1 week in 15 patients (39.47%), between 1 week and 1 month in 13 patients (34.21%), and 1 month after phacoemulsification in 9 patients (23.68%). Conclusion: This study is in agreement with worldwide literature, asserting that major complications of phacoemulsification are posterior capsule rupture and capsular bag detachment, and in addition, there is an improvement in the final visual acuity in almost half the cases, even when there are complications during modern cataract surgery, when complementary appropriate treatment is provided. .

Objetivos: Identificar as causas e os resultados da vitrectomia via pars plana (VPP) em pacientes submetidos à cirurgia de facoemulsificação com complicação intraoperatória, analisando se o tempo cirúrgico entre a facoemulsificação e a VPP interfere na melhor acuidade visual corrigida final. Métodos: Estudo analítico descritivo e retrospectivo realizado no Hospital de Olhos do Paraná em 2013. Os dados foram coletados de prontuários de 38 pacientes que foram submetidos à cirurgia de facoemulsificação complicada e que também precisaram de VPP. Resultados: A complicação intraoperatória mais frequente na cirurgia de facoemulsificação, nos pacientes estudados, foi à ruptura de cápsula posterior, que ocorreu em 35 pacientes (92,10%), seguido de desinserção zonular em 3 pacientes (7,89%). Em 28 pacientes (73,68%) foram encontrados restos corticais, que foram removidos durante a VPP. Em 12 pacientes (31,57%) foi realizado o reposicionamento da lente intraocular. A cirurgia de VPP foi realizada no mesmo dia da facoemulsificação em 1 paciente (2,63%), dentro de 7 dias em 15 pacientes (39,47%), entre 1 semana e 1 mês em 13 pacientes (34,21%) e após 1 mês da facoemulsificação em 9 pacientes (23,68%). Conclusão: O presente estudo encontrou dados semelhantes aos descritos na literatura mundial, que afirmam que as principais complicações da facoemulsificação são a ruptura de cápsula posterior e desinserção zonular; e que a acuidade visual final melhora, em aproximadamente metade dos casos, mesmo após ocorrer complicações na cirurgia de catarata moderna, quando instituído tratamento complementar adequado. .

Congenital simple hamartoma of the retinal pigment epithelium: a case report.

We report the case of a 56-year-old woman who presented for a routine ophthalmological examination without visual symptoms and had a unilateral black retinal lesion that was detected by clinical examination. Fluorescein angiography and optical coherence tomography findings were compatible with a congenital simple hamartoma of the retinal pigment epithelium. It is very important to detect this tumor and differentiate it from other pigmented fundus lesions that can compromise visual function or result in systemic conditions such as those caused by malignant tumors.

Congenital simple hamartoma of the retinal pigment epithelium: a case report / Hamartoma congênito simples do epitéilo pigmentado da retina: relato de caso

We report the case of a 56-year-old woman who presented for a routine ophthalmological examination without visual symptoms and had a unilateral black retinal lesion that was detected by clinical examination. Fluorescein angiography and optical coherence tomography findings were compatible with a congenital simple hamartoma of the retinal pigment epithelium. It is very important to detect this tumor and differentiate it from other pigmented fundus lesions that can compromise visual function or result in systemic conditions such as those caused by malignant tumors.

Relato de um caso de paciente feminina de 56 anos que compareceu a uma consulta oftalmológica de rotina sem sintomas visuais e apresentando uma lesão retiniana preta, unilateral, detectada ao exame clínico. As características da angiografia fluoresceínica e da tomografia de coerência óptica foram compatíveis com hamartoma congênito simples do epitélio pigmentado da retina. É muito importante detectar este tumor e diferenciá-lo de outras lesões fundoscópicas pigmentadas que podem comprometer a função visual ou, além disso, afetar o paciente sistemicamente como em tumores malignos.

Corneal topographic changes after 20-gauge pars plana vitrectomy associated with scleral buckling for the treatment of rhegmatogenous retinal detachment

PURPOSE: To evaluate the changes in corneal topography after 20-gauge pars plana vitrectomy associated with scleral buckling for the repair of rhegmatogenous retinal detachment. METHODS: Twenty-five eyes of 25 patients with rhegmatogenous retinal detachment were included in this study. 20-gauge pars plana vitrectomy associated with scleral buckling was performed in all patients. The corneal topography of each was measured before surgery and one week, one month, and three months after surgery by computer-assisted videokeratoscopy. RESULTS: A statistically significant central corneal steepening (average, 0,9 D , p<0,001) was noted one week after surgery. The total corneal astigmatism had a significant increase in the first postoperative month (p=0,007). All these topographic changes persisted for the first month but returned to preoperative values three months after the surgery. CONCLUSION: Pars plana vitrectomy with scleral buckling was found to induce transient changes in corneal topography.

OBJETIVO: Avaliar as alterações topográficas da córnea após a realização de vitrectomia via pars plana 20-gauge associada à introflexão escleral para o tratamento do descolamento de retina regmatogênico. MÉTODOS: Vinte e cinco pacientes com descolamento de retina regmatogênico foram incluídos neste estudo. Vitrectomia via pars plana 20-gauge associada à introflexão escleral foi realizada em todos os pacientes. O exame de topografia de córnea computadorizada de cada paciente foi realizado antes da cirurgia e ao sétimo dia, trigésimo dia e três meses após a cirurgia. RESULTADOS: Um aumento da curvatura corneana estatisticamente significativo foi encontrado no sétimo dia após a cirurgia (média 0,9 D, p<0,001). O astigmatismo corneano total teve um aumento significativo no primeiro mês pós-operatório (p=0,007).Todas as alterações topográficas persistiram no primeiro mês pós-operatório, mas retornaram aos valores pré-operatórios três meses após a cirurgia. CONCLUSÃO: A vitrectomia via pars plana associada à introflexão escleral pode induzir alterações transitórias na topografia corneana.

Subretinal fibrosis in stargardt's disease: case report / Fibrose sub-retiniana na doença de Stargardt: relato de caso

The authors describe the clinical characteristics of a 14-year-old female patient with ophthalmoscopic and angiographic aspects of Stargardt's disease in both eyes who developed subretinal fibrosis and localized retinal pigment epithelial hyperplasia in the posterior pole of the right eye 6 months after a mild blunt trauma to the right globe. The left fundus remains with the typical presentation of Stargardt's disease. Our findings support the theory that ocular trauma occurring in patients with Stargardt's disease can precipitate a sequence of events leading to the development of subretinal fibrosis and significant visual loss.

Os autores descrevem as características clínicas de uma paciente de 14 anos com aspectos na oftalmocospia e angiofluoresceinografia de doença de Stargardt em ambos olhos que desenvolveu fibrose sub-retiniana e hiperplasia localizada do epitélio pigmentado da retina no polo posterior do olho direito seis meses após um trauma contuso leve neste globo. A fundoscopia do olho esquerdo permanence com a apresentação típica de doença de Stargardt. Nossos achados suportam a teoria de que o trauma ocular em pacientes com doença de Stargardt pode precipitar uma sequência de eventos que pode levar ao desenvolvimento de fibrose sub-retiniana e acentuada baixa da acuidade visual.

Subretinal fibrosis in Stargardt's disease: case report.

The authors describe the clinical characteristics of a 14-year-old female patient with ophthalmoscopic and angiographic aspects of Stargardt's disease in both eyes who developed subretinal fibrosis and localized retinal pigment epithelial hyperplasia in the posterior pole of the right eye 6 months after a mild blunt trauma to the right globe. The left fundus remains with the typical presentation of Stargardt's disease. Our findings support the theory that ocular trauma occurring in patients with Stargardt's disease can precipitate a sequence of events leading to the development of subretinal fibrosis and significant visual loss.