[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report]

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Mucopolysaccharidosis (MPS) Type VI, also known as Maroteaux-Lamy syndrome, is a rare lysosomal storage disorder.
• Genetic mutations lead to deficient N-acetylgalactosamine-4-sulfatase, causing accumulation of glycosaminoglycans.
• Systemic manifestations affect multiple organs, with ocular complications being significant.

Observation:

• A 19-year-old patient diagnosed with MPS Type VI presented with significant ocular findings.
• Observed ocular manifestations included corneal opacity, elevated intraocular pressure (IOP), and increased corneal thickness.
• Genetic-clinical examination confirmed the diagnosis of MPS Type VI.

Findings:

• The study details the characteristic syndromic features of MPS Type VI in the patient.
• Elevated IOP was noted, but increased corneal thickness was a confounding factor.
• Corneal thickness significantly influenced the assessment of intraocular pressure.

Implications:

• Accurate diagnosis and understanding of MPS Type VI pathophysiology are crucial for effective patient management.
• Increased corneal thickness in MPS patients can lead to misdiagnosis of glaucoma.
• This case underscores the importance of considering corneal biomechanics in IOP assessment to avoid unnecessary antiglaucomatous treatments.