Ophthalmic genetics · 2026
Beyond corneal structure in Noonan syndrome: topographic, tomographic, and optical findings.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Bayraktar Havvanur, Aksöz Petek, Esen Tuna Eren, Akbaş Yusuf Berk, Gezdirici Alper
Аннотация
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.
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.