Results 31 to 40 of about 2,092 (170)

Acute acquired comitant esotropia: A prospective study [PDF]

Eye, 1999
To define the clinical characteristics of patients presenting with acute onset esotropia and features suggestive of possible underlying central nervous system pathology. To assess the prognosis for the return of binocular function and to consider the most appropriate management.A prospective clinical study was carried out of all patients presenting to ...
C J, Lyons, P A, Tiffin, D, Oystreck
openaire   +2 more sources

Acute acquired comitant esotropia associated with Lhermitte–Duclos disease: a case report

Journal of Medical Case Reports
Background 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, Ryo Ando, Hiroaki Motegi, Hirokazu Sugino, Tomoko Mitsuhashi, Susumu Ishida   +5 more
doaj   +1 more source

Study of clinical types and treatment outcomes of pediatric esotropia in Sohag University Hospital [PDF]

Egyptian Journal of Clinical Ophthalmology
Background: Pediatric strabismus should be addressed promptly to enhance the likelihood of achiev-ing binocular vision and to reduce the chances of amblyopia.
Abdallah, A., Alsamman, A., Moussa, E., Mazen, A.   +3 more
doaj   +1 more source

Atypical presentation of acute acquired comitant esotropia [PDF]

Clinical and Experimental Optometry, 2017
Comitant esotropia typically presents during infancy or early childhood and is usually benign and unrelated to an underlying neurological disorder.1998 Acute acquired comitant esotropia is an infre...
Robert P, Rutstein, Sarah D, Lee, David R, Zimmerman   +2 more
openaire   +2 more sources

The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees, Hinke Marijke Jellema, Anne‐Marie E. L. Langenhorst, B. Jeroen Klevering, Laurentius J. van Rijn, Annabel L. W. Groot   +5 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Epidemiology, clinical features, and surgical outcomes of acute acquired concomitant esotropia associated with myopia.

PLoS ONE, 2023
PurposeTo analyze epidemiology, clinical features, and surgical outcomes of type III acute acquired concomitant esotropia (Bielschowsky esotropia (BE)).MethodsThe medical charts of patients diagnosed with acquired concomitant esotropia between 2013 and ...
Matilde Roda, Natalie di Geronimo, Nicola Valsecchi, Lorenzo Gardini, Michela Fresina, Aldo Vagge, Luigi Fontana, Costantino Schiavi   +7 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

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