Menkes disease. New ocular and electroretinographic findings.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 9627659.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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.
Medical subject headings
- Eye Abnormalities
- Eyelashes
- Iris
- Menkes Kinky Hair Syndrome
- Retinal Degeneration