Results 101 to 110 of about 20,708 (323)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Efficacy Of Botulinum Toxin In Patients With Infantile Esotropia: The Long-Term Effect With A Single Injection

Beyoglu Eye Journal, 2018
INTRODUCTION[|] Btx A uses strabismus for congenital esotropia or large angle horizontal strabismus in adults and acute paretic strabismus when surgical treatment of the ocular muscles is not yet possible.
Ebru Demet Aygıt
doaj   +1 more source

Functional Convergence Spasm and Dysconjugate Eye Movements: A Vignette

Movement Disorders Clinical Practice, EarlyView.
Iryna Klopotovska, Koemi‐Jade Garrick, Diego Kaski   +2 more
wiley   +1 more source

Wildervanck syndrome [PDF]

, 2008
O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva.
CAPELLA, João Luís Curvacho, YAMANE, Iris de Souza, YAMANE, Yoshifumi   +2 more
core   +2 more sources

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, Volume 98, Issue 3, Page 561-572, September 2025.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab, Rusul Thabit Hamid, Mostafa Neissi, Javad Mohammadi‐Asl, Motahareh Sheikh‐Hosseini, Elaheh Nekouei   +5 more
wiley   +1 more source

Outcome of delayed adjustable strabismus surgery in children using a bow-tie optional adjustable technique

Indian Journal of Ophthalmology, 2019
Purpose: The aim of this article is to study the feasibility of a delayed adjustable technique of strabismus surgery in children using an optional adjustable suture technique. Methods: The retrospective study included patients
R Muralidhar, Lal Churawan, M Sekar, A P Chidambaram, P Mugdha, D Ramamurthy   +5 more
doaj   +1 more source

Repeatability of the measurement of the horizontal phoria in near vision with cover test and modified thorington method [PDF]

, 2017
Objectiu- Estudiar la repetibilitat del cover test alternant i el mètode modificat de Thorington. Mètode- En aquest estudi han participat 10 persones joves i sanes amb agudesa visual de prop igual o superior a 20/20 amb la seva correcció habitual.
Gervilla Díaz, Gemma
core  

Accommodation and vergence response gains to different near cues characterize specific esotropias [PDF]

, 2013
Aim. To describe preliminary findings of how the profile of the use of blur, disparity and proximal cues varies between non-strabismic groups and those with different types of esotropia. Design. Case control study Methodology.
Anna M. Horwood, Candy TR, Cassin B, Costenbader FD, Erkelens C, Erkelens CJ, Gage J, Harb E, Havertape SA, Horwood A, Horwood A, Horwood A, Horwood A, Horwood AM, Horwood AM, Kruger P, Kruger PB, Ludwig I, Patricia M. Riddell, Plenty J, Riddell P, Rosenfield M, Rosenfield M, Rouse MW, Schor C, Schor C, Schor C, Stark L, Stewart RE, Tyler CW, Von Noorden G, Yan J   +31 more
core   +1 more source

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
A novel de novo GLI2 variant (p.Arg499Leu) was identified in a child with hypopituitarism and subtle craniofacial and neurodevelopmental features, broadening the clinical spectrum of GLI2‐related disorders and supporting genotype–phenotype correlations.
Himanshu Goel, Katrina Harrison
wiley   +1 more source