A. Suppiej

Evaluating the Role of MC1R Variants in Cutaneous and Ocular Phenotypes: A Candidate TYR–MC1R Genetic Interaction in Oculocutaneous Disorders

Background: The melanocortin-1 receptor (MC1R) gene is a major determinant of skin and hair color. Although several MC1R variants increase the risk of skin tumors regardless of pigmentation, their role as genetic modifiers in ocular diseases remains poorly understood. Methods: Here, we analyzed a cohort of 48 Caucasian...

Guidance (challenges and priorities) in the assessment of children with low vision: ERN-EYE clinical consensus statement.

Across Europe, children living with low vision often face inconsistent approaches to the assessment of their visual function, leading to delays in diagnosis and unequal access to care. To address this gap, a multidisciplinary group of experts from eight European countries developed a clinical consensus statement (CCS),...

Paroxysmal tonic upgaze mimicking epileptic seizures in infancy: a diagnostic challenge.

Psychological and lifestyle predictors of paediatric sleep disturbances: a cross-sectional study

Sleep disturbances are strongly associated with trait anxiety and independently related to evening screen exposure, while parental anxiety appears to exert its effect both directly and, in part, indirectly through child anxiety.