ISSN 2415-1297 (Online)   ISSN 2415-1300 (Print)
Volume : 30 Issue : 1 Year : 2023
Noonan Syndrome Eye Signs: A Case Report [Med J Islamic World Acad Sci]
Med J Islamic World Acad Sci. 2017; 25(2): 57-60 | DOI: 10.5505/ias.2017.95815  

Noonan Syndrome Eye Signs: A Case Report

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

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

Keywords: Eye signs, genetic evaluation, Noonan syndrome

Taha Ayyıldız. Noonan Syndrome Eye Signs: A Case Report. Med J Islamic World Acad Sci. 2017; 25(2): 57-60

Corresponding Author: Taha Ayyıldız, Türkiye

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