Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction

Area of Science:

• Genetics
• Ophthalmology
• Metabolic Disorders

Background:

• Galactosialidosis is a rare lysosomal storage disease caused by CTSA gene mutations.
• Ocular manifestations, particularly in type IIb, are not extensively documented.
• Early diagnosis is crucial for managing metabolic disorders.

Observation:

• A 35-year-old male presented with blurred vision and bilateral macular cherry-red spots.
• Ocular findings included corneal stromal deposits, lens opacity, and retinal changes on OCT.
• Mild systemic and neurological symptoms were noted.

Findings:

• Diagnosis of galactosialidosis confirmed by decreased beta-galactosidase and sialidase activity.
• Genetic analysis revealed abnormalities in protective proteins linked to the CTSA gene.
• Ophthalmological findings included hyperreflective retinal regions and thickened ganglion cell layers.

Implications:

• This case emphasizes the diagnostic significance of macular cherry-red spots in lysosomal storage diseases.
• Mild late-onset galactosialidosis may present with subtle ophthalmological findings.
• Long-term monitoring is essential for patients with mild galactosialidosis.