Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report.

ABSTRACT:

Background

Weill-Marchesani syndrome 4 (WMS4) is caused by ADAMTS17 gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature. Due to free of heart defects and joint stiffness compared with other WMS forms, WMS4 has an insidious onset and is often misdiagnosed as high myopia. We combined multiple imaging biometry and whole-exome sequencing to diagnose a case of WMS4 with a 3-year follow-up.

Case presentation

An 8-year-old boy presented to our ophthalmology department with progressive myopia for 1 year. He had high myopia in both eyes with normal funds, intraocular pressure, and axial length. Ocular examination revealed thicker lenses (right 4.38 mm, left 4.31 mm) with a smaller eq

SUBMITTER: Huang J 

PROVIDER: S-EPMC9868407 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature