Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report.

ABSTRACT:

Purpose

To retrospectively report a case of Weill-Marchesani syndrome 4 (WMS4) with compound heterozygous variants of ADAMTS17 gene.

Observations

The patient was a 7-year-old boy with progressively worsening eyesight and intermittent elevated intraocular pressure (IOP) for two years. His IOPs were temporarily controlled using anti-glaucoma drugs. At presentation he had a shallow anterior chamber, lens subluxation, spherophakia and extensive synechial angle closure with high myopia in both eyes. Ultrasound biomicroscopy (UBM) identified thickened zonule fibers and anteriorly rotated, flat and slender ciliary processes, both of which worsened and were accompanied by obvious iris bombe after miosis. Gene testing showed compound heterozygosity of a maternal submicroscopic

SUBMITTER: Yu X 

PROVIDER: S-EPMC9046107 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature