Williams-Beuren Syndrome Case with Atypical Flattening of Fovea Centralis, Decreased ILM-RPE Thickness and Irregular Corneal Surface

Purpose: To describe a case of atypical flattening of fovea centralis and corneal irregularity in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome. Methods: This is an observational case report. The medical history of the patient was assessed. Ophthalmologic examination including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus autofluorescence and optical coherence tomography (OCT) imaging, full-field electroretinography, multifocal electroretinography and corneal topography was performed and literature was reviewed. Results: Previous genetic analysis (fluorescence in situ hybridization method) had confirmed the diagnosis of William-Beuren syndrome in this patient by detection of the deletion on chromosome 7q11.23. Visual acuity of the patient was 0.7 for both eye with Snellen chart. OCT imaging showed the flattening of the foveal contour and corneal topography revealed the finding of irregular corneal surface. All other ophthalmologic tests were normal. Conclusion: The authors report the first case of a patient with ophthalmic findings characteristic for flattening of fovea centralis and corneal irregularity mimicking keratoconus in the setting of genetically confirmed Williams–Beuren syndrome.