RESUMO
OBJECTIVES: Peroxisome assembly disorders are genetic disorders characterized by biochemical abnormalities, including low docosahexaenoic acid (DHA). The objective was to assess whether treatment with DHA supplementation would improve biochemical abnormalities, visual function, and growth in affected individuals. METHODS: This was a randomized, double-blind, placebo-controlled trial conducted at a single center. Treatment groups received supplements of DHA (100 mg/kg per day). The primary outcome measures were the change from baseline in the visual function and physical growth during the 1 year follow-up period. RESULTS: Fifty individuals were enrolled and randomized. Two were subsequently excluded from study analysis when it was determined that they had a single enzyme disorder of peroxisomal beta oxidation. Thirty-four returned for follow-up. Nine patients died during the trial of their disorder, and 5 others were lost to follow-up. DHA supplementation was well tolerated. There was no difference in the outcomes between the treated and untreated groups in biochemical function, electroretinogram, or growth. Improvements were seen in both groups in certain individuals. CONCLUSIONS: DHA supplementation did not improve the visual function or growth of treated individuals with peroxisome assembly disorders. CLASSIFICATION OF EVIDENCE: This interventional study provides Class II evidence that DHA supplementation did not improve the visual function or growth of treated individuals with peroxisome assembly disorders during an average of 1 year of follow-up in patients aged 1 to 144 months.
Assuntos
Ácidos Docosa-Hexaenoicos/uso terapêutico , Transtornos Peroxissômicos/tratamento farmacológico , Doença de Refsum Infantil/tratamento farmacológico , Síndrome de Zellweger/tratamento farmacológico , Estatura/efeitos dos fármacos , Estatura/fisiologia , Pré-Escolar , Suplementos Nutricionais , Ácidos Docosa-Hexaenoicos/farmacologia , Método Duplo-Cego , Eletrorretinografia/efeitos dos fármacos , Seguimentos , Humanos , Lactente , Recém-Nascido , Transtornos Peroxissômicos/fisiopatologia , Doença de Refsum Infantil/fisiopatologia , Resultado do Tratamento , Percepção Visual/efeitos dos fármacos , Percepção Visual/fisiologia , Síndrome de Zellweger/fisiopatologiaRESUMO
In recent years there has been much discussion in the literature regarding the proper approach to the patient who presents with apparent "low tension" glaucoma. In addition to a complete workup and proper management of such a patient, careful consideration must be given to the differential diagnosis of clinical conditions presenting with optic disc cupping and visual field changes. We present an interesting clinical situation in which a patient with severe myopia and Leber's optic atrophy was referred for surgery for treatment of apparent progressive "low tension" glaucoma.