Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.

ABSTRACT:

Background/aims

To characterise the ocular manifestations of Williams-Beuren syndrome (WBS) and compare these to patients with isolated elastin mediated supravalvular aortic stenosis (SVAS).

Methods

Fifty-seven patients with a diagnosis of WBS and five with SVAS underwent comprehensive ophthalmic evaluation at the National Institutes of Health from 2017 to 2020, including best-corrected visual acuity, slit-lamp biomicroscopy, optical biometry, dilated fundus examination, optical coherence tomography and colour fundus imaging.

Results

Mean age of the 57 WBS patients was 20.3 years (range 3-60 years). Best-corrected visual acuity ranged from 20/20 to 20/400 with mean spherical equivalent near plano OU. Twenty-four eyes (21.8%) had an axial length (AL) less than 20.5 mm

SUBMITTER: Huryn LA 

PROVIDER: S-EPMC10074447 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature