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Keratopathy in Noonan Syndrome
Yelin Yang1, Jyh Haur Woo1,2, Asim Ali1,3
1Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada.
Cornea
|July 22, 2022
Summary
Noonan syndrome can cause serious vision problems due to corneal scarring and vascularization. Early detection and treatment of this keratopathy are crucial to prevent vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Noonan syndrome is a rare genetic disorder.
- Anterior segment abnormalities, particularly keratopathy, are uncommon manifestations.
Observation:
- Two young male patients with Noonan syndrome presented with progressive corneal abnormalities.
- Both patients developed recurrent corneal scarring, vascularization, and vision deterioration despite initial treatments.
Findings:
- The patients exhibited inferior epitheliopathy, corneal scarring, and vascularization, leading to significant vision loss.
- Histopathology revealed a disturbed Bowman layer and fibrous tissue, suggesting an abnormal fibrotic response.
Implications:
- Noonan syndrome should be considered in the differential diagnosis of visually significant keratopathy.
- Prompt diagnosis and management of keratopathy in Noonan syndrome patients are essential to preserve vision and avoid surgery.
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