Weill–Marchesani syndrome: A rare cause of ectopia lentis and short stature

Abstract

Background: Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is caused by either biallelic pathogenic variants in ADAMTS10, ADAMTS17, and LTBP2 or heterozygous pathogenic variants in FBN1 genes. Clinical Description: We describe a case of 6-year-old girl who had short stature, high myopia, and bilateral ectopia lentis. The visual acuity was 6/18 (−25.00/−3.00 × 35) in both the eyes with an intraocular pressure (IOP) 15 mmHg and 17 mmHg in right and left eye, respectively. The clinical exome sequencing identified a heterozygous pathogenic c.2413T>C in FBN1 gene confirming the diagnosis of WMS. Management: The proband was prescribed a trial of contact lenses and she is under regular follow-up. The patient is being regularly monitored for any signs of lens displacement, raised IOP. She has been planned for lens extraction, to prevent glaucoma, in case of any progression of symptoms or rise in IOP. Conclusion: WMS should be suspected in any child with short stature and high myopia. The rarity of this disorder often results in diagnostic delay and dreaded complications of secondary glaucoma and blindness.

Keywords

• brachydactyly
• ectopia lentis
• short stature