Results 41 to 50 of about 7,158 (182)
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford +2 more
wiley +1 more source
Acute acquired comitant esotropia associated with Lhermitte–Duclos disease: a case report
Journal of Medical Case ReportsBackground Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years.
Junya Ota +5 more
doaj +1 more source
Case Reports in Ophthalmology, 2015 Background: Acute comitant esotropia secondary to heroin withdrawal is a rarely reported phenomenon that has never been described with nystagmus. Adverse effects of heroin on eye alignment were first reported in soldiers returning from Vietnam, yet no ...
Richard L. Rabin
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca +7 more
wiley +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 875-887, May 2026.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 3, May 2026.ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan +7 more
wiley +1 more source
British and Irish Orthoptic Journal, 2011 Aim: Convergence excess accommodative esotropia describes an esotropia on accommodation at near fixation that is controlled to an esophoria/orthophoria at distance fixation with binocular single vision.
Tess Garretty
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang +8 more
wiley +1 more source
Resolution of adult-onset cyclic esotropia
Journal of Clinical Ophthalmology and ResearchCyclic esotropia is a rare type of strabismus that has alternating periods of esotropia and orthotropia. We present the case of a 60-year-old male who complained of inward deviation of the right eye for 8–9 years with alternating periods of 12-h ...
Chasin Riamuk Roomching +1 more
doaj +1 more source
Cyclic Esotropia: Surgical Treatment Results of Two Cases
Türk Oftalmoloji Dergisi, 2014 Cyclic esotropia is a rare form of strabismus characterized by alternating periods of esotropia and orthophoric (or almost orthophoric) eye position. Herein, we discuss two children with cyclic esotropia and their surgical treatment results.
Serpil Akar +4 more
doaj +1 more source