Menkes disease. New ocular and electroretinographic findings.
OBJECTIVE
The authors describe new ocular and electroretinographic (ERG) features in Menkes disease.


METHODS
The study design is a case report.


METHODS
The authors studied two patients with Menkes disease.


METHODS
The authors performed complete ophthalmologic and ERG evaluations in both patients.


METHODS
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.
Ferreira
R C
RC
Department of Ophthalmology, Federal University of São Paulo, Brazil.
Heckenlively
J R
JR
Menkes
J H
JH
Bateman
J B
JB
D004596:Electroretinography; D005124:Eye Abnormalities / Q000175:diagnosis*; D005140:Eyelashes / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis*; D009887:Ophthalmoscopy; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000503:physiopathology