CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
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Menkes disease. New ocular and electroretinographic findings.

Ophthalmology 1998 June
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.

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