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Research Article: Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report

Date Published: 2023-09-30

Abstract:
Background: Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. Case presentation: A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats’ disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. Conclusions: Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a PTPN11 mutation with anterior uveitis and CD.

Introduction:
Noonan syndrome (NS) (OMIM 163950) is a mostly autosomal dominant inherited multisystem disorder with high heterogeneity in phenotype. The prevalence is estimated to be 1 in 1000–2500 live births [1,2,3]. Maternal transmission dominates in hereditary types, while de novo mutations tend to be paternal in origin [4,5]. The condition is caused mainly by gain-of-function (GOF) mutations in genes encoding proteins integral to the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) cell signaling pathway, which is…

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