Ocular manifestations of Noonan syndrome

Abstract

Purpose: To describe the ophthalmological characteristics in a group of Noonan syndrome patients with proven mutations in the PTPN11 gene.

Methods: Thirty-five Noonan syndrome patients with PTPN11 gene mutations underwent ophthalmological exams, which consisted of external inspection, slit-lamp biomicroscopy examination and an ophthalmoscopic examination after instillation of 1.0% tropicamide or 1.0% cyclopentolate.

Results: All 35 patients had at least one abnormality upon ophthalmological examination. The eyelid and external eye abnormalities were the prevailing features, followed by prominent corneal nerves on slit-lamp exam. Fundus changes were detected in 8% of the subjects, mainly associated with high myopia. No statistically significant differences were observed among the patients presenting specific mutations in the PTPN11 gene.

Conclusions: The current study further supports the finding that ocular symptoms account for a large fraction of the clinical manifestations of NS. Additional characteristics are described here. The roles for the various mutations of PTPN11 in ocular development are yet to be established.

Keywords::

• Noonan syndrome
• PTPN11
• ocular
• ophthalmological characteristics
• eye

ACKNOWLEDGMENTS

This work was supported by a grant from Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) - 08/50184-2.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this paper.