Weill-Marchesani Syndrome Presenting With Microspherophakia And Secondary Glaucoma: A Case Report

Weill-Marchesani syndrome (WMS) is a rare hereditary connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, heart defects, and ocular abnormalities, including microspherophakia, lens ectopia, and glaucoma. Both autosomal recessive and autosomal dominant inheritance patterns have been described. Genetically, WMS can be diagnosed by identifying homozygous pathogenic variants in ADAMTS10, ADAMTS17, or LTPBP2, or a heterozygous pathogenic variant in FBN1.

The patient was evaluated and treated at the Sakarya University Training and Research Hospital, Department of Ophthalmology, Turkey.

We present the case of a 26-year-old female patient who presented to our hospital for an eye examination after starting eye drops (brimonidine/brinzolamide/timolol) at another ophthalmology center. The patient exhibited systemic abnormalities, including short stature, facial dysmorphism, jaw and dental anomalies, and brachydactyly. 

Autorefraction: -7.75 D Sph -5.50 D Cyl 125°/-6.75 D Sph -5.50 D Cyl 50°

Intraocular pressure (IOP): 17 mmHg/14 mmHg

Best-corrected visual acuity: 20/50 in both eyes

Central corneal thickness: 550 µm/557 µm

Mean anterior chamber (AC) angle: 26° in both eyes

AC depths: 1.74 mm/1.76 mm 

Axial length: 22.26 mm/21.77 mm

Slit-lamp examination: Shallow AC, microspherophakia with irido-phacodonesis in both eyes, posterior synechiae at 12 o’clock in the left eye

Fundus: Bilateral optic disc cupping of 0.8 

Several months after follow-up, IOP increased to 27 mmHg and 25 mmHg, with a noticeable shallow anterior chamber. Consequently, we considered performing YAG Laser Peripheral Iridotomy (LPI) and cataract surgery. However, cataract surgery was not performed as the patient declined surgical intervention. Instead, we proceeded with YAG LPI, which successfully reduced the IOP to 14 mmHg and 15 mmHg at the next examination.

Based on these findings at the initial examination, WMS syndrome was suspected. The patient was subsequently referred for genetic consultation, which confirmed the diagnosis ADAMTS17(NM_139057.4):c.354_367del (p.Gly119AlafsTer70) homozygous mutation.

This case highlights the importance of recognizing WMS as a rare but significant hereditary connective tissue disorder with ocular and systemic manifestations. Microspherophakia, irido-phacodonesis, and secondary glaucoma should prompt clinicians to consider WMS, especially in patients with short stature, brachydactyly, and facial dysmorphism. Early diagnosis and proper management, including IOP control and laser iridotomy, are crucial to preventing visual deterioration. Genetic testing plays a key role in confirming the diagnosis, as demonstrated in this case, where a homozygous ADAMTS17 mutation was identified. Multidisciplinary follow-up is essential for comprehensive patient care.