Results 111 to 120 of about 1,728 (214)

Cine-magnetic resonance imaging in differential diagnosis of restrictive and paralytic eye muscle disorders

, 1998
Evaluation of eye muscle contractility and motility is essential in the differential diagnosis and treatment of restrictive and paralytic eye muscle disorders.
Ozden, RG, Atilla, S, Akpek, S, Erkam, N, Atilla, H   +4 more
core  

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Determination of the Correlation Between Types of Strabismus and Certain Medical Conditions

, 2019
A Thesis submitted to The University of Arizona College of Medicine - Phoenix in partial fulfillment of the requirements for the Degree of Doctor of Medicine.There are numerous subtypes of strabismus: esotropia where one eye deviates inward compared to ...
Warrington, Nicole
core  

Use of lyophilized bovine pericardium (Tutopatch®) for surgical management of strabismus [PDF]

Objective: This study evaluates the application of lyophilized bovine pericardium (Tutopatch®) as an alternative material for tendon elongation in complex strabismus revision surgeries, addressing challenges posed by traditional methods.
Elabbasy, Mohamed
core   +1 more source

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith–Magenis Syndrome and the Importance of the Diagnostic Pathway

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Smith–Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid‐induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep–wake rhythm.
Fethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, Mert Coşkun, Mehmet Burak Mutlu, Berna Polat Tüysüz   +5 more
wiley   +1 more source

Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13

, 1998
SummaryThe extraocular fibrosis syndromes are congenital ocular-motility disorders that arise from dysfunction of the oculomotor, trochlear, and abducens nerves and/or the muscles that they innervate.
Mullaney, P.B., Beggs, A.H., Wang, S.M., Engle, E.C., Zwaan, J., Jabak, M.H., Al-Awad, A.   +6 more
core   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

Pathological Processes of Eye Muscles (PPT)

, 2015
Pathological processes involving the extraocular muscles are some of the most common causes of acquired, nonneurologic strabismus. Although thyroid eye disease is most frequently encountered, other infiltrative, metastatic, and myotoxic processes must be
Stacy Pineles, MD, MS
core  

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A Quasi‐Experimental Study of an Online Communication Partner Training Program for Orthoptic Students

International Journal of Language &Communication Disorders, Volume 61, Issue 4, July/August 2026.
ABSTRACT Background and Aims Current clinical practice guidelines recommend communication partner training (CPT) for healthcare professionals to maximise effective communication when providing care to clients with an acquired brain injury (ABI) from stroke and traumatic brain injury.
Sonia Lau, Emma Power, Amanda French
wiley   +1 more source