RESUMO
OBJECTIVE: The authors describe new ocular and electroretinographic (ERG) features in Menkes disease. DESIGN: The study design is a case report. PARTICIPANTS: The authors studied two patients with Menkes disease. INTERVENTION: The authors performed complete ophthalmologic and ERG evaluations in both patients. MAIN OUTCOME MEASURES: The parameters used were slit-lamp biomicroscopy and ERG recordings. RESULTS: Aberrant lashes and anterior stromal hypoplasia of the iris are new findings, and profound delays in b-wave implicit time in well-developed photopic responses may be added as new ERG features. CONCLUSIONS: Patients with Menkes disease may have aberrant lashes, anterior stromal hypoplasia, and retinal degeneration.
Assuntos
Anormalidades do Olho/diagnóstico , Pestanas/anormalidades , Iris/anormalidades , Síndrome dos Cabelos Torcidos/diagnóstico , Degeneração Retiniana/diagnóstico , Eletrorretinografia , Pestanas/patologia , Humanos , Lactente , Iris/patologia , Masculino , Oftalmoscopia , Retina/fisiopatologia , Degeneração Retiniana/fisiopatologiaRESUMO
PURPOSE: To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. METHODS: A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS. RESULTS: We report cataract in all patients and glaucoma in one, the latter never previously reported in CS. CONCLUSION: CS should be considered in babies with low birth weight and congenital cataract.