Fundoscopic Changes in Maroteaux-Lamy Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder.
• It results from a deficiency in the enzyme N-acetylgalactosamine-4-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs).
• Ocular manifestations are common, primarily involving corneal clouding.

Observation:

• A 16-year-old female patient with diagnosed MPS VI presented with significant vision impairment due to corneal opacification.
• Following bilateral penetrating keratoplasty, fundoscopic examination and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed.
• These investigations suggested the presence of GAG deposits within the sclera.

Findings:

• This is the first reported in vivo case suggesting scleral GAG deposits in MPS VI.
• The patient's fundoscopic findings remained stable post-surgery.
• The case highlights that ocular findings in MPS VI may extend beyond traditionally described pathologies.

Implications:

• Increased survival rates in MPS VI patients due to better management of systemic issues allow for the observation of less common complications.
• Ocular management, including surgical interventions like keratoplasty, is crucial for improving visual acuity and quality of life.
• Further research into the ocular manifestations of MPS VI, including scleral involvement, is warranted.