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Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
Published on: December 22, 2014
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME
Laura Kuehlewein1, SriniVas R Sadda
1Doheny Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California.
Purpose:
To describe a case of rod-cone dystrophy associated with Williams syndrome.
Methods:
This is an observational case report. The medical history was assessed. Examination included ophthalmoscopy, slit-lamp biomicroscopy, fundus autofluorescence imaging, optical coherence tomography, full-field and multifocal electroretinography, and fluorescence in situ hybridization for genetic testing.
Results:
A 14-year-old Asian Indian girl with characteristic facies and heart murmur, and with findings on ophthalmoscopy, slit-lamp biomicroscopy, fundus autofluorescence imaging, optical coherence tomography, full-field electroretinography, and multifocal electroretinography consistent with panretinal rod-cone dystrophy, has been reported. Fluorescence in situ hybridization revealed only 1 copy of the elastin gene on Chromosome 7, confirming the diagnosis of Williams syndrome in this patient.
Conclusion:
The authors report the first case of a patient with ophthalmic findings characteristic for rod-cone dystrophy in the setting of genetically confirmed Williams-Beuren syndrome.
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