Noonan Syndrome and its Ophthalmic Implications: Insights from a Pediatric Case

Abstract

ABS TRACT Noonan syndrome (NS) is a rare genetic disorder and may present with extraocular findings such as ptosis, telecanthus, and downward-slanting palpebral fissures, as well as ocular signs including refractive errors, amblyopia, nystagmus, and optic atrophy. We present, a 7year-old patient diagnosed with NS a year ago who was referred for ophthalmological evaluation. The patient had ptosis, nystagmus, esotropia, myopia, astigmatism and optic nerve hypoplasia. The best-corrected visual acuity, was 0.8 in the right eye and 0.1 in the left eye. He was prescribed spectacles and advised occlusion therapy for the right eye for 3 hours per day. At the one-year follow-up, the visual acuity in the right eye remained unchanged, whereas the visual acuity in the left eye improved to 0.2. Factors contributing to vision impairment in NS include ptosis, anisometropic amblyopia, and cataract. Early ophthalmological assessment is crucial for NS; because intervention for these conditions during childhood can lead to improvements in visual acuity.