| Full text | |
| Author(s): |
Pitta Marin, Lenina da Rocha
;
Gaspar Carvalho da Silva, Felipe Theodoro Bezerra
[1]
;
Ferreira de Sa, Luis Carlos
[2]
;
Brasil, Amanda Salem
[2]
;
Pereira, Alexandre
[3]
;
Furquim, Isabel Mosca
[2]
;
Kim, Chong Ae
[2]
;
Bertola, Debora Romeo
[2]
Total Authors: 8
|
| Affiliation: | [1] Univ Sao Paulo, Fac Med, Dept Ophthalmol, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca, Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, InCor, Sao Paulo - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | OPHTHALMIC GENETICS; v. 33, n. 1, p. 1-5, MAR 2012. |
| Web of Science Citations: | 4 |
| 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. (AU) | |