RESUMO

BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light. All were hyperopes (+4,25 to + 17,50) with a short axial length (14,4 mm to 18 mm). Common posterior segment features, though not present in all, were optic disc drusen (5/10), foveoschisis (5/10) and retinal pigmentary changes (8/10). Isolated patients presented with macular atrophy, serous retinal detachment, and chorioretinal folds. The most common variant in MFRP found in our patients was a deletion in exon 5 (c.498delC; p.Asn267Thrfs *25), present in all except 2 patients. Other variants found were c.523C>T (p.Gln175*), c.298delG (p.Ala100Argfs *37), c.666del (p.Thr223Argfs *83) and the novel variant c.257C>A (p.Ala86Asp). CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.

Assuntos

Assuntos

RESUMO

Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

RESUMO

Macular cystoid edema is one of the major causes of decreased vision after cataract surgery. The inflammatory process appears to be the main causal factor of the edema. The major risk factors are: surgical complications, previous retinal diseases, diabetes, uveitis and use of prostaglandins drops. The diagnosis is clinically, but fluorescein angiography and optical coherence tomography are also important to detect swelling and assist in differential diagnosis. Although pre-operative prophylaxis do not have scientific evidence, it is recommended especially in cases with risk factors. The initial treatment includes a combination of both topic corticosteroid and nonsteroidal anti-inflammatory. Chronic and refractory cases can be managed with alternatives treatment, such as intravitreal triamcinolone and anti-angiogenic. This article aims to discuss various aspects of pseudophakic macular cystoid edema.

O edema macular cistoide é uma das principais causas de baixa de visão após cirurgia de catarata. O processo inflamatório parece ser o principal fator causal do edema. São considerados fatores de risco complicações cirúrgicas, doenças retinianas prévias, diabetes, uveítes e uso de colírios de prostaglandinas. O diagnóstico é feito clinicamente, mas a angiografia fluoresceínica e a tomografia de coerência óptica também são ferramentas importantes para detectar o edema e auxiliar no diagnóstico diferencial. Apesar da profilaxia pré-operatória não ter evidência científica, ela é preconizada especialmente nos casos com fatores de risco. O tratamento inicial é realizado com associação de corticoide e anti-inflamatório não hormonais tópicos. Os casos crônicos e refratários têm diversas alternativas de tratamento, sendo o uso de triancinolona e antiangiogênicos intravítreos as mais utilizadas. Este artigo se propõe a discutir diversos aspectos do edema macular cistoide pseudofácico.

Assuntos

RESUMO

OBJECTIVE: To identify in adult patients suffering from cataract the perceptions regarding the disease and its surgical treatment. MATERIALS AND METHODS: An exploratory survey was conducted among adult patients suffering from cataract and participating in a large-scale cataract management program at the University of São Paulo General Hospital in 2004. The interviews were conducted by research assistants previously trained to pose questions and record answers. RESULTS: The sample consisted of 170 men and women (43.5% and 56.5%, respectively), aged between 40 and 88 years. Of the 170 participants, 43.5% were from the State of São Paulo, 14.7% from the State of Bahia, 12.4% from the State of Minas Gerais, 5.9% from the State of Pernambuco, 1.8% from other countries, and the remaining 21.7% were from other Brazilian states. Of those who were actively working (n = 87), 43.7% had an occupational level corresponding to nonspecialized manual labor, 27.6% were in specialized manual labor jobs, 25.3% had routine nonmanual occupations, 1.1% supervised manual labor, and 2.3% had low-ranking supervision or inspection jobs over nonmanual occupations. Of those who were not actively working (n = 82), 53.6% were retired, 45.2% were housewives, and 1.2% were unemployed. Concerning conceptions about cataract, 79.0% referred to it as "a small skin fold that gradually covers the eye" and 32.4% mentioned, in addition, other conceptions. Concerning the cause, of the alternatives presented to them, 80% reported aging, 47.1% blamed "overusing the eyes in the workplace or at home", 7.1% believed they had cataract due to some kind of "spell." Of the associated answers, 94.1% referred to "blurred vision" in people suffering from cataract, 72.4% thought the person may become blind, and 66.5% believed that the patients suffering from cataract are depressed because they cannot see. Regarding surgery, 28.8% were afraid of undergoing surgery; of those, 16.3% cited with the fear of dying during surgery, 55.1% thought they might become blind, 40.8% believed the surgery would be painful, and 8.2% followed religious practices that do not permit surgery. CONCLUSION: Some misconceptions were identified, and the fear of blindness was the most mentioned reason for not seeking cataract surgery, which indicates the need for orientation.

Assuntos

RESUMO

OBJETIVO: Identificar percepções de adultos portadores de catarata em relação à doença e ao tratamento cirúrgico.MATERIAIS E MÉTODOS: Foi realizada uma pesquisa exploratória entre pacientes adultos portadores de catarata presentes em mutirão em hospital universitário no ano de 2004. Auxiliares de pesquisa previamente treinados para formulação das questões e registros das respostas, encarregaram-se das entrevistas. RESULTADOS: A amostra foi composta por 170 sujeitos de ambos os sexos (43,5% do sexo masculino e 56,5% do sexo feminino) com idade entre 40 e 88 anos. Dos 170 participantes, 43,5% eram nascidos no estado de São Paulo, 14,7% na Bahia, 12,4% em Minas Gerais, 1,8% nasceram em outros paises e os demais sujeitos, em outros estados brasileiros.Da população ativa no mercado de trabalho (n=87), encontravam-se em nível de ocupação manual não especializada 43,7%; ocupação manual especializada 27,6%; ocupação de rotina não manual 25,3%; supervisão de trabalho manual 1,1%; posição baixa de supervisão ou inspeção , considerando ocupações não manuais,2,3 %. Entre a população inativa no mercado de trabalho (n=82), 53,6% eram aposentados, 45,2% donas de casa e 1,2% desempregados. Em relação a concepção sobre catarata, 79,0% referiram ser uma "pelezinha que vai cobrindo os olhos" e 32,4% além da "pelezinha", mencionaram outras concepções. Em relação a causa , entre as opções fornecidas, 80% relacionam a velhice; 47,1% "por usar muito as vistas no serviço ou em casa"; 7,1% acreditam que tem catarata devido a "mau olhado". Dentre as respostas associadas, 94,1% referiram que a "visão fica embaçada" na pessoa que tem catarata, 72,4% acham que a pessoa pode ficar cega e 66,5% acham que os portadores de catarata ficam com depressão por não enxergarem. Vinte e oito por cento tem medo de se submeter a cirurgia, desses, 16,3% atribuem ao fato de poderem morrer na cirurgia; 55,1% acham que podem ficar cego; 40,8% crêem que a cirurgia dói e 8,2% tem medo de operar pois a religião não permite. CONCLUSÃO: Foram evidenciados alguns conhecimentos incorretos, o medo de ficar cego se fez presente entre as razões para não operar a catarata, indicando necessidade de provimento de orientação.

Assuntos