Beyond corneal structure in Noonan syndrome: topographic, tomographic, and optical findings
Ophthalmic Genetics, 2026 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Publication Date: 2026
- Doi Number: 10.1080/13816810.2026.2731380
- Journal Name: Ophthalmic Genetics
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO)
- Keywords: corneal tomography, corneal topography, high-order aberrations, Noonan syndrome
- Istanbul University Affiliated: No
Abstract
Introduction: This study aimed to evaluate corneal topographic, tomographic, and wavefront characteristics in individuals with Noonan syndrome (NS) and to compare these findings with those of healthy controls. Methods: This prospective, case–control study included 18 patients with NS (36 eyes) and 19 age- and sex-matched controls (38 eyes). All participants underwent anterior segment tomography and corneal wavefront analysis. Both eyes were included in the analysis, and inter-eye correlation was addressed using generalized estimating equation (GEE) models. Results: Keratometric values, central corneal thickness, and anterior and posterior corneal elevation parameters were comparable between groups (all p > 0.05). Cylindrical refractive error was greater in the NS group (−0.92 ± 0.19 vs − 0.41 ± 0.12 D; p = 0.022). Corneal wavefront analysis demonstrated significantly higher total corneal high-order aberration root mean square (HOA RMS) (0.54 ± 0.03 vs 0.44 ± 0.03 μm; p = 0.004), coma RMS (0.37 ± 0.01 vs 0.27 ± 0.03 μm; p = 0.001), and trefoil RMS (0.27 ± 0.03 vs 0.19 ± 0.02 μm; p = 0.012) in the NS group. Conclusions: Individuals with NS demonstrated preserved corneal structure but exhibited heterogeneous alterations in corneal optical quality, characterized by increased asymmetric high-order aberrations and greater cylindrical refractive error in a subset of patients. These findings suggest variable and predominantly subclinical corneal involvement rather than a uniform ectatic phenotype.