Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

Problems related to visual anomalies are common among young children, particularly in
preterm neonates. Screening to enable early diagnosis and correction of visual deficiency is …

Artificial intelligence (AI)‐based diagnostic algorithms have achieved ambitious aims
through automated image pattern recognition. For neurological disorders, this includes …

We report here the case of a 27-year-old man who consulted by telemedicine during the
Coronavirus disease 2019 (COVID-19) pandemic, due to foreign body sensation and left …

Aim To examine the quality of binocular coordination of saccades in dyslexic children in
single word reading and in a task requiring fixation of single LED. Methods Eighteen …

Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive
cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common …

Objective: To determine the prevalence of vernal keratoconjuntivitis (VKC) in Europe.
Methods: A cross-sectional survey was mailed to 3003 ophthalmologists from six countries …

Background Risdiplam is an oral small molecule approved for the treatment of patients with
spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal …

Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype
that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis …

Duchenne muscular dystrophy (DMD) is a severe and progressive myopathy leading to
motor and cardiorespiratory impairment. We analyzed samples from patients with DMD and …