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Optic nerve changes in PTPN11-related Noonan syndrome
Tarek Saad Shoala1,2, Linda M Reis3, Jenina Capasso1
1Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA.
Oman Journal of Ophthalmology
|November 13, 2025
Summary
Noonan syndrome, caused by PTPN11 gene variants, can lead to optic nerve anomalies like an enlarged cup/disc ratio. This finding may be misdiagnosed as glaucoma, highlighting the importance of genetic testing.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Neurology
Background:
- Noonan syndrome is a genetic disorder characterized by dysmorphic facial features, short stature, and congenital heart defects.
- Pathogenic variants in the PTPN11 gene are a frequent cause of Noonan syndrome.
- PTPN11 gene variants have been associated with optic nerve head anomalies.
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