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Retinal involvement in Morquio's syndrome (MPS IV)
Annals of Ophthalmology
|June 1, 1985
Summary
This study reports the first case of retinal abnormalities in Morquio's syndrome, a rare genetic disorder. Findings suggest mild, progressive retinal changes may appear in older individuals with this condition.
Area of Science:
- Ophthalmology
- Medical Genetics
- Metabolic Disorders
Background:
- Pigmentary retinal degeneration is a known feature in several types of mucopolysaccharidoses (MPS).
- Retinal involvement had not been previously documented in Morquio's syndrome (MPS IV).
Observation:
- A 43-year-old patient with Morquio's syndrome presented with ophthalmoscopic and electrophysiologic abnormalities.
- The patient exhibited arteriolar narrowing, increased photopic b-wave implicit time, and decreased scotopic b-wave amplitude.
- An electro-oculogram (EOG) revealed slightly abnormal results.
Findings:
- This case represents the first documented instance of retinal abnormalities in Morquio's syndrome.
- The patient, at 43, is the oldest individual with Morquio's syndrome to undergo electrophysiologic testing.
- Electrophysiologic results indicate potential visual pathway dysfunction.
Implications:
- Retinal involvement in Morquio's syndrome may be mild but progressive.
- These changes might not be apparent in younger patients but become detectable in older individuals.
- This highlights the importance of ophthalmologic screening in long-term management of Morquio's syndrome.