Medical College of Wisconsin
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Optic nerve changes in PTPN11-related Noonan syndrome. Oman J Ophthalmol 2025;18(3):396-398

Date

11/13/2025

Pubmed ID

41230054

Pubmed Central ID

PMC12604699

DOI

10.4103/ojo.ojo_80_25

Scopus ID

2-s2.0-105020044445 (requires institutional sign-in at Scopus site)

Abstract

Characteristic features of Noonan syndrome include dysmorphic facies, short stature, and congenital cardiac defects. Pathogenic variants in PTPN11 are one of the common causes and may result in optic nerve head anomalies. We describe the optic nerve findings in two families with Noonan syndrome due to pathogenic variants in PTPN11. Optic nerve anomalies, including an enlarged cup/disc ratio, are a feature of Noonan syndrome due to pathogenic variants in PTPN11. This optic nerve anomaly could potentially lead to the misdiagnosis of glaucoma. PTPN11 is important for functional fibroblast growth factor signaling, which, if interrupted, may lead to optic nerve dysgenesis and ocular coloboma.

Author List

Shoala TS, Reis LM, Capasso J, Semina E, Levin AV

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology department at Medical College of Wisconsin