title: ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Doheny Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California.
authors: Laura
authors: L
authors: Kuehlewein
authors: SriniVas R
authors: SR
authors: Sadda
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D012174:Retinitis Pigmentosa / Q000209:etiology*; D014786:Vision Disorders / Q000209:etiology; D018980:Williams Syndrome / Q000150:complications*