Noonan Syndrome Eye Signs: A Case Report

Abstract

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.