Laura Kuehlewein1, SriniVas R Sadda. 1. Doheny Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California.
Abstract
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.
PURPOSE: To describe a case of rod-cone dystrophyassociated 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.