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Updated: Aug 18, 2026
Multifocal Electroretinograms
Published on: December 4, 2011
Retinal involvement in Morquio's syndrome (MPS IV)
Abstract:
Prior to this report, pigmentary degeneration of the retina had been described in four of the six types of mucopolysaccharidosis (MPS). However, it had not been described in Morquio's syndrome. To the authors' knowledge, the case presented represents the first patient with Morquio's syndrome demonstrating ophthalmoscopic and electrophysiologic abnormalities. The patient demonstrated arteriolar narrowing, as well as an increased photopic b-wave implicit time, decreased scotopic b-wave amplitude, and a slightly abnormal electro-oculogram (EOG). At 43 years of age, this patient represents the oldest individual with Morquio's syndrome tested electrophysiologically. It is proposed that the retinal involvement in the disease is mild but progressive and therefore perhaps is not seen in younger patients but becomes apparent in older persons with Morquio's syndrome.
Insights
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.
