Results 31 to 40 of about 1,728 (214)

Congenital fibrosis of the extraocular muscles

Oman Journal of Ophthalmology, 2010
Background : Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles ...
Pascale Cooymans, Sana Al-Zuhaibi, Rana Al-Senawi, Anuradha Ganesh   +3 more
doaj   +1 more source

Strabismus from supernumerary extraocular muscle restriction [PDF]

Neurology, 2016
A 39-year-old Caucasian woman, right-handed and myopic, complained of binocular horizontal diplopia, which was worse at distance than near. Examination revealed a −1 abduction limitation of the right eye (figure 1). There was a 10-prism diopter esophoria in primary gaze that increased to an esotropia of 25 prism diopters in right gaze, and was 12 prism
Jason H, Peragallo, Patricia A, Hudgins
openaire   +2 more sources

Conjunctival mini-flap operation for restrictive strabismus after periocular surgery

, 2013
PURPOSE: To investigate the effect of conjunctival mini-flap operation to treat restrictive strabismus in patients with diplopia caused by conjunctival adhesion and hyperplasia after periocular surgery. DESIGN: Case series study.
유수리나, 윤상철, 서경률
core   +1 more source

Burden of ocular motility disorders at a Tertiary Care Institution: A case to enhance secondary level eye care

Indian Journal of Community Medicine, 2016
Aim: To evaluate the profile of strabismus and amblyopia in patients presenting to a tertiary care institution in order to understand the disease burden. Materials and Methods: A retrospective, prospective hospital-based observational study was conducted
Rohit Saxena, Digvijay Singh, Shiva Prasad Gantyala, Sneha Aggarwal, Murli Manohar Sachdeva, Pradeep Sharma   +5 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Vertical restrictive strabismus associated with proptosis: Similar clinical signs, different etiopathogenetic causes. A report of three patients

, 2020
Purpose: To report the different uncommon pathogenesis of three cases of severe vertical restrictive strabismus associated with progressive unilateral proptosis with similar clinical features.
Volpe G., Midena G., Fiorentino V., Grimaldi G., Savino G., Maceroni M., Petrone G.   +6 more
core   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Golden Indications and an Overview on the Use of Botulinum Toxin in Strabismus

Türk Oftalmoloji Dergisi, 2023
Botulinum toxin A (BTXA) is considered a pharmacological agent that may provide an alternative treatment to surgery in strabismus. It can be used as both a diagnostic and therapeutic agent in various concomitant, paralytic, and restrictive disorders. The
Seyhan B. Özkan
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Lateral rectus palsy as first manifestation of orbital lymphoma

Vision Pan-America, 2017
Lymphomas are the most common primary orbital tumour in adults 60 years of age and older. We present a case of a 79-year-old woman complaining of red eye, tearing and diplopia.
Bruno Pina
doaj   +3 more sources