Results 91 to 100 of about 80,554 (310)
European Journal of Neurology, 2011 The ocular motor system consists of several subsystems, including the vestibular ocular nystagmus saccade system, the pursuit system, the fixation and gaze‐holding system and the vergence system. All these subsystems aid the stabilization of the images on the retina during eye and head movements and any kind of disturbance of one of the systems can ...
Straube A., Bronstein A., Straumann D.
openaire +2 more sources
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Clinical Genetics, EarlyView.We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel +10 more
wiley +1 more source
Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus
Electronic Physician, 2017 Introduction: The aim of this study was to assess the effectiveness of displacement surgery in damping of ocular oscillation and management of compensatory head posture in patients of congenital nystagmus.
Faried Mohammed Wagdy +2 more
doaj +1 more source
What Is Wrong with the No-Report Paradigm and How to Fix It [PDF]
, 2019 Is consciousness based in prefrontal circuits involved in cognitive processes like thought, reasoning, and memory or, alternatively, is it based in sensory areas in the back of the neocortex?
Block, Ned
core
The effect of visual impairment on quality of life of children aged 3-16 years [PDF]
, 2010 Background: It is well known that visual impairment (VI) has a detrimental effect on Quality of Life (QoL) in adults. Little is known about the effects of VI in childhood. Aims: To evaluate the effects of VI on QoL of children.
Chadha, R. K., Subramanian, A.
core +3 more sources
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, EarlyView.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Management of nystagmus by surgery and botulinum toxin options: a review
British and Irish Orthoptic Journal, 2009 Aim: To critically evaluate the literature in order to explore the success of botulinum toxin and extraocular muscle surgery in the management of acquired nystagmus.
Fay Hobson, Fiona J. Rowe
doaj +1 more source
Functional Convergence Spasm and Dysconjugate Eye Movements: A Vignette
Movement Disorders Clinical Practice, EarlyView.
Iryna Klopotovska +2 more
wiley +1 more source
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source