Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.

Background: Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants in resulting in dysregulation of the Ras pathway. A systematic characterization of ophthalmic manifestations provides a unique opportunity to understand the role of Ras signal transduction in ocular development and guide optimal ophthalmic care in CS individuals.

Methods: Visual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboring pathogenic variants, by cross-sectional and retrospective studies, and were recruited through the Costello Syndrome Family Network (CSFN) between 2007 and 2020.

Early visual-evoked potential acuity and future behavioral acuity in cortical visual impairment.

Purpose: Cortical Visual Impairment (CVI) is bilateral visual impairment caused by damage to the posterior visual pathway. Both preferential looking and sweep visual-evoked potential (VEP) can be used to measure visual acuity. The purpose of this study was to determine if an early VEP measure of acuity is related to a young patient's future behavioral acuity.

VEP vernier, VEP grating, and behavioral grating acuity in patients with cortical visual impairment.

Purpose: Cortical visual impairment (CVI) is a leading cause of bilateral vision impairment. Because many patients with CVI cannot perform an optotype test, their acuity is often measured with a grating stimulus using a preferential looking (PL) test or the visual-evoked potential (VEP) recording. The purpose of this study is to determine the relationship among VEP vernier acuity, VEP grating acuity, and behavioral grating acuity in patients with CVI.

Longitudinal quantitative assessment of vision function in children with cortical visual impairment.

Purpose: Cortical visual impairment (CVI) is bilateral visual impairment caused by damage to the posterior visual pathway, the visual cortex, or both. Current literature reports great variability in the prognosis of CVI. The purpose of this study was to evaluate change in vision function in children with CVI over time using a quantitative assessment method.

Effect of myopia on visual acuity measured with laser interference fringes.

The aim was to determine how visual acuity is affected by myopia when optical factors of the eye are controlled. Grating acuity was measured with interference fringes to avoid the effects of aberrations, and ocular biometry was used to compensate for differences in retinal image size among subjects. Distance spectacle refractions ranged from +2.

Age differences in emotion-regulation strategies in handling everyday problems.

We examined age differences in problem-focused and emotion-regulatory problem-solving strategy use for self-generated family problems. Young, middle-aged, and older participants generated family problem situations that were high and low in emotional salience. They were asked both how they solved the problem and how they managed emotions involved in the problem.