Atypical corneal clouding in mucopolysaccharidoses

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Corneal clouding at birth has diverse causes, including congenital anomalies and rare genetic conditions like mucopolysaccharidoses (MPS).
• Lysosomal storage disorders, such as MPS, often manifest with ocular symptoms, including corneal clouding, though severity varies.
• Hunter syndrome is an example where corneal clouding is typically absent or mild.

Observation:

• A case of MPS Type I S (MPS 1) is presented with significant bilateral corneal clouding.
• The corneal clouding in this patient spared the central 3 mm, with near-normal visual acuity.
• The patient exhibited characteristic facial and skeletal features consistent with a lysosomal storage disorder.

Findings:

• This presentation of MPS 1 with dense corneal clouding and central sparing is highly unusual.
• The ocular findings deviate from the typical presentation of MPS and other lysosomal storage disorders.
• The case highlights the potential for marked corneal opacity even in MPS types not usually associated with severe eye disease.

Implications:

• This case underscores the importance of recognizing atypical ocular presentations in lysosomal storage disorders.
• Routine ophthalmological screening is recommended for patients diagnosed with MPS and other storage disorders.
• Understanding rare presentations can improve diagnostic pathways and patient management for genetic metabolic diseases.