Menkes disease. New ocular and electroretinographic findings.

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.