Results 51 to 60 of about 847,078 (155)

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

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 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

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Common Forms of Childhood Esotropia

, 2001
Objective: To determine the most common forms of childhood esotropia. Design: Prospective, consecutive, observational case series. Participants: All esotropic children younger than 11 years of age from a predominantly rural Appalachian region evaluated ...
Mohney, Brian G.
core   +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

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  

Long-term efficacy of botulinum toxin for treatment of acquired non-accommodative comitant esotropia

Scientific Reports
Acquired non-accommodative comitant esotropia (ANAET) represents a distinct subclass of esotropia that predominantly manifests in older children and adults.
Min Seok Kang, Jihae Park, Hee Kyung Yang, Jeong-Min Hwang   +3 more
doaj   +1 more source

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

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