Acute glaucoma in systemic mucopolysaccharidosis I-S

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Systemic mucopolysaccharidosis I-S (Scheie's syndrome) is a rare genetic disorder.
• Acid mucopolysaccharide accumulation affects various tissues, including the cornea.
• Ocular complications in mucopolysaccharidoses can impact vision and require specialized management.

Purpose of the Study:

• To report a case series of siblings with Scheie's syndrome experiencing acute glaucoma.
• To describe the challenges in managing glaucoma when corneal opacification prevents anterior chamber angle visualization.
• To explore the potential mechanism of glaucoma in this specific patient population.

Main Methods:

• Case report of two siblings diagnosed with mucopolysaccharidosis I-S.
• Clinical observation of sequential development of acute glaucoma in both affected eyes of each sibling.
• Assessment of diagnostic and management challenges due to corneal opacity.

Main Results:

• Both siblings developed acute glaucoma successively in each eye.
• Corneal clouding caused by acid mucopolysaccharide deposition significantly hindered anterior chamber angle assessment.
• The glaucoma presentation suggested an angle-closure mechanism potentially linked to thickened ocular structures.

Conclusions:

• Acute glaucoma is a significant ocular complication in systemic mucopolysaccharidosis I-S.
• Corneal acid mucopolysaccharide deposition presents a unique challenge for glaucoma diagnosis and management.
• Thickening of anterior ocular structures may contribute to angle-closure glaucoma in Scheie's syndrome.