Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature

• Published in: BMC ophthalmology Vol. 14; no. 1; p. 70
• Main Authors: Todorova, Margarita G, Grieshaber, Matthias C, Cámara, Rafael J A, Miny, Peter, Palmowski-Wolfe, Anja M
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 21.05.2014; BioMed Central
• Subjects: Abnormalities, Multiple; Analysis; Anterior Eye Segment - abnormalities; Cardiovascular diseases; Case Report; Corneal Opacity - diagnosis; Corneal Opacity - genetics; Diagnosis; Diagnosis, Differential; Eye Abnormalities - diagnosis; Eye Abnormalities - genetics; Female; Genetic aspects; Genetic Testing; Humans; Infant, Newborn; Microscopy, Acoustic; Patient outcomes; Phenotype; Williams syndrome; Williams Syndrome - diagnosis; Williams Syndrome - genetics
• ISSN: 1471-2415; 1471-2415
• DOI: 10.1186/1471-2415-14-70

Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion. A term born girl presented at the initial examination with clouding of the right cornea. On ultrasound biomicroscopy the anterior chamber structures were difficult to differentiate, showing severe adhesions from the opacified cornea to the iris with a kerato-irido-lenticular contact to the remnant lens, a finding consistent with Peters' anomaly. Genetic analyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typical Williams-Beuren syndrome. Microsatellite analysis showed a loss of about 2.36 Mb. A diagnosis of Williams-Beuren syndrome was made based on the microdeletion of 7q11.23. The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdeletion. Arguments in favor of the latter are unilateral manifestation, as well as the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations.