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[Ophthalmologic signs in mucopolysaccharidoses: two case reports]
E Lala-Gitteau1, S Majzoub, F Labarthe
1Service d'Ophtalmologie, CHU de Tours, Hôpital Bretonneau, France. gitteau.lala@free.fr
Journal Francais D'Ophtalmologie
|February 24, 2007
Summary
Mucopolysaccharidoses (MPS) are rare genetic disorders causing vision problems. Early diagnosis by ophthalmologists is crucial for timely treatment and improved outcomes in children with MPS.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPS) are inherited lysosomal storage diseases characterized by facial dysmorphy and glycosaminoglycan accumulation.
- This accumulation leads to severe systemic and ophthalmologic complications.
Observation:
- Two 18-month-old girls presented with corneal clouding and photophobia, indicative of MPS.
- Diagnoses included Scheie's syndrome (MPS I-S) and Hurler's syndrome (MPS I-H), confirmed by facial dysmorphy and biochemical testing.
- Ocular findings ranged from isolated corneal clouding to disc swelling.
Findings:
- Ocular manifestations of MPS include stromal opacities, glaucoma, retinopathy, and optic nerve swelling.
- Ophthalmologic signs can be the presenting feature, leading to the diagnosis of MPS.
- Early diagnosis before neurological signs is critical for effective intervention.
Implications:
- Prompt diagnosis of MPS by ophthalmologists can halt disease progression.
- Improved awareness of MPS clinical signs among ophthalmologists can enhance patient prognosis.
- Timely enzyme replacement therapy and bone marrow transplantation offer therapeutic avenues.
