Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Cardiology

Background:

• Weill-Marchesani syndrome is a rare genetic disorder characterized by a distinct set of physical features.
• Ophthalmological manifestations, particularly glaucoma, are a significant concern in Weill-Marchesani syndrome.
• Early diagnosis and management are crucial to prevent irreversible vision loss.

Purpose of the Study:

• To report a case of a 16-year-old girl diagnosed with Weill-Marchesani syndrome.
• To describe the ophthalmological findings and surgical management of this condition.
• To emphasize the importance of recognizing Weill-Marchesani syndrome for timely intervention.

Main Methods:

• Case report of a 16-year-old female with decreased visual acuity and elevated intraocular pressure.
• Ophthalmological examination including visual acuity, intraocular pressure, and gonioscopy.
• Surgical intervention involving lens extraction, capsular tension ring, intraocular lens, and Shunt ExPress implantation.

Main Results:

• The patient presented with best-corrected visual acuity of 0.3 (R.E.) and 0.4 (L.E.) and intraocular pressure of 46 mmHg (R.E.) and 42 mmHg (L.E.).
• Post-surgery, best-corrected visual acuity improved to 0.7 (R.E.) and 0.63 (L.E.), and intraocular pressure normalized to 14 mmHg (R.E.) and 13 mmHg (L.E.) at 6 months.
• The patient's ocular and systemic history was consistent with Weill-Marchesani syndrome.

Conclusions:

• Weill-Marchesani syndrome requires a multidisciplinary approach due to its complex systemic and ocular manifestations.
• Glaucoma is a sight-threatening complication of Weill-Marchesani syndrome, necessitating prompt surgical management.
• A high index of suspicion for Weill-Marchesani syndrome is essential in patients presenting with characteristic ocular findings.