Results 41 to 50 of about 2,092 (170)

Prismatic treatment of acute acquired concomitant esotropia of 25 prism diopters or less

BMC Ophthalmology, 2022
Background This study aimed to assess the efficacy of prismatic treatment in a step-by-step manner to reduce prismatic strength in acute acquired concomitant esotropia (AACE) of 25 prism diopters (PD) or less.
Yan Wu, Xueliang Feng, Junhong Li, Min Chang, Jingjing Wang, Hua Yan   +5 more
doaj   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Acute Acquired Comitant Esotropia Associated with Accommodative Excess in High Myopia

Delhi Journal of Ophthalmology
Acute acquired comitant esotropia (AACE) is a type of concomitant esotropia that has a sudden onset and is frequently associated with diplopia. Accommodative excess associated with AACE in myopic patients is rare.
Santosh Chhetri, Umesh Belbase
doaj   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

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, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +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, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Cyclic esotropia

Acta Médica del Centro, 2008
Cyclic esotropia is a very rare form of esotropia, a particular clinical form of deviation related to the circadian cycle or biological clock. It is an acquired esotropia occurring in patients of all ages, though it is more frequent between 2 and 6 years
Ana Isabel Santana Machado, Armando Y. Estévez Díaz, Cila Machado Pinto   +2 more
doaj  

Botulinum toxin treatment for bielschowsky acquired commitant esotropia in adults

BMC Ophthalmology, 2022
Background Many researchers have noticed that there is an increasing trend of Bielschowsky acquired comitant esotropia (ACE) in recent years related to excessive near work, but the exact pathogenesis and treatment methods have not been reported yet ...
Likun Ai, Xiaoli Chen, Ruilin Guo, Jing Li, Jinghui Wang, Yi Feng, Yiqin Guo, Jianan Wang   +7 more
doaj   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

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, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, Volume 28, Issue 2, Page 344-358, April 2026.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source