ISSN 2415-1297 (Online)   ISSN 2415-1300 (Print)
Volume : 25 Issue : 1 Year : 2017
Noonan syndrome eye signs case report [Med J Islamic World Acad Sci]
Med J Islamic World Acad Sci. Ahead of Print: IAS-95815 | DOI: 10.5505/ias.2017.95815  

Noonan syndrome eye signs case report

Taha Ayyıldız
Department of Ophthalmology, Ahi Evran University, Kırşehir, Turkey

Noonan Syndrome (NS) is a rare autosomal dominant inherited disease which is characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. It is important to know that eye findings are high in patients and they usually occur as hypertelorism, downward sloping palpebral fissures, epicentral folds, ptosis, fracture defects, strabismus, amblyopia, nystagmus, school coloboma, keratoconus and rarely cataracts. 14-year-old male patient suspected Noonan syndrome due to Inferior pectus excavatum and diagnosed by genetic evaluation was Noonan syndrome; to evaluate the ocular findings were referred to our clinic and presented here obtained from the patient ophthalmic examination signs.
This rare syndrome is characterized by heterogeneous group involvement in various organs; Requires a multidisciplinary approach to ensure early diagnosis and treatment of multiple malformations

Keywords: Noonan syndrome, eye signs, genetic evaluation

Corresponding Author: Taha Ayyıldız, Türkiye

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