RESUMO
PURPOSE: The aim of this study is to evaluate the efficacy of topical cysteamine 0.55% eye drops in the treatment of corneal cystine crystal deposits in patients with nephropathic cystinosis. METHODS: Thirty-two patients with nephropathic cystinosis were prospectively included in the study. Patients with corneal cystinosis were treated with topical cysteamine 0.55% eye drops. They were examined before treatment, on each monthly visit and after treatment at the last follow-up. Photophobia was classified as grade 0 (none) for no photophobia, grade 1 (mild) for photophobia in bright light, grade 2 (moderate) for photophobia in room light and grade 3 (severe) for photophobia in dim light. Corneal cystine crystals were graded as grade 0=none, grade 1=1-10 crystals/mm2, grade 2=11-50 crystals/mm2, grade 3=more than 50 crystals/mm2. The main outcome measure was evaluation of photophobia and resolution of corneal cystine crystals. RESULTS: There were 13 male and 19 female patients. The mean age was 8â years with an age range of 8â months to 19â years. The mean follow-up period was 4.1â years with a range of 2-8â years. Improvement of photophobia was not clinically significant in symptomatic patients. Patients displayed statistically significant worsening of corneal cystine deposits during the follow-up period. CONCLUSIONS: This study has shown that topical 0.55% cysteamine eye drops may have limited effects in decreasing the corneal cystine deposits in patients with severe forms of nephropathic cystinosis. TRIAL REGISTRATION NUMBER: NCT02766855, Results.
Assuntos
Doenças da Córnea/tratamento farmacológico , Cisteamina/administração & dosagem , Eliminadores de Cistina/administração & dosagem , Cistinose/tratamento farmacológico , Administração Tópica , Adolescente , Criança , Pré-Escolar , Doenças da Córnea/diagnóstico , Doenças da Córnea/fisiopatologia , Cistinose/diagnóstico , Cistinose/fisiopatologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Soluções Oftálmicas , Fotofobia/fisiopatologia , Estudos Prospectivos , Resultado do Tratamento , Acuidade Visual/fisiologia , Adulto JovemAssuntos
Fissura Palatina/genética , Colágeno Tipo II/genética , Nanismo/genética , Doença da Membrana Hialina/genética , Mutação , Sítios de Splice de RNA/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Fissura Palatina/patologia , Doenças do Colágeno , Análise Mutacional de DNA , Nanismo/patologia , Éxons , Face/anormalidades , Face/patologia , Feminino , Testes Genéticos/métodos , Genoma Humano , Humanos , Doença da Membrana Hialina/patologia , Osteocondrodisplasias , Exame FísicoAssuntos
Catarata/diagnóstico , Catarata/genética , Colágeno Tipo XI/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Sequência de Bases , Osso e Ossos/diagnóstico por imagem , Fácies , Genes Recessivos , Humanos , Lactente , Masculino , Fenótipo , Radiografia , Análise de Sequência de DNARESUMO
INTRODUCTION: Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD. METHODS: Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed. Patients underwent full ophthalmologic examination. Patients with chorioretinal lesions were investigated for various causes of chorioretinitis. Molecular studies for common CGD-causing genes were performed in patients with chorioretinal lesions. RESULTS: This cohort included 32 CGD patients: 14 (44%) had abnormal eye findings, 11 (34%) had anterior segment disease, and 4 (12.5%) had chorioretinal lesions. Posterior segment findings consisted of uniformly similar hypopigmented atrophic punched-out chorioretinal scars around the arcades and mid-equator sparing of the macula. One patient had exudative hemorrhagic total retinal detachment in the right eye. Two siblings with chorioretinal lesions had mutation in CYBB, an X-linked gene. Another patient carried a missense mutation in NCF2, causing autosomal-recessive disease. CONCLUSIONS: While ocular manifestation is common in CGD, chorioretinal lesions seem less frequent. However, they present potential risk of visual loss; it is recommended that patients undergo regular ophthalmologic examinations. This report provides further evidence that chorioretinal lesions occur not only in X-linked, but they can also occur in the autosomal-recessive form of CGD.