Menkes disease: New ocular and electroretinographic findings

The authors describe new ocular and electroretinographic (ERG) features in Menkes disease. The study design is a case report. The authors studied two patients with Menkes disease. The authors performed complete ophthalmologic and ERG evaluations in both patients. The parameters used were slit-lamp biomicroscopy and ERG recordings. 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. Patients with Menkes disease may have aberrant lashes, anterior stromal hypoplasia, and retinal degeneration.