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.