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.
PURPOSE: To describe the ophthalmological characteristics in a group of Noonan syndromepatients with proven mutations in the PTPN11 gene. METHODS: Thirty-five Noonan syndromepatients 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.
Authors: Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell Journal: Circulation Date: 2018-11-20 Impact factor: 29.690
Authors: Dorothée C van Trier; Ineke van der Burgt; Renske W Draaijer; Johannes R M Cruysberg; Cees Noordam; Jos M Draaisma Journal: Eur J Pediatr Date: 2018-06-09 Impact factor: 3.183
Authors: Mojdeh Abbasi; Vivek Gupta; Nitin Chitranshi; Yuyi You; Yogita Dheer; Mehdi Mirzaei; Stuart L Graham Journal: Front Cell Neurosci Date: 2018-03-27 Impact factor: 5.505