Results 41 to 50 of about 1,226,909 (155)

Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

Oman Journal of Ophthalmology, 2014
A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia.
Malvika Gupta, Om Prakash Gupta, Vishal Vohra   +2 more
doaj   +1 more source

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

Molecular Cytogenetics, 2020
Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the ...
Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias   +9 more
doaj   +1 more source

Duane syndrome: An overview on the current management

Taiwan Journal of Ophthalmology, 2023
Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on attempted adduction and narrowing of the palpebral aperture.
Priyanka Prasad, Abhyuday Saxena, Rohit Saxena   +2 more
doaj   +1 more source

Pontine Tegmental Cap Dysplasia Presenting With Global Developmental Delay and Vestibulocochlear Nerve Aplasia: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT PTCD should be considered in children with developmental delay and sensorineural hearing loss. MRI is crucial for identifying the characteristic dorsal “tegmental cap” and associated hindbrain anomalies. Vestibulocochlear nerve aplasia may explain severe hearing impairment in PTCD.
Khawar Bilal, Muhammad Owais Rao, Syed Muhammed Salman Hassan, Arnella Husenaj Tagani, Naila Nadeem, Sarim Hassan Shahab, Fazal Habib   +6 more
wiley   +1 more source

Superior rectus recession combined with lateral rectus recession and Y-split surgery for exotropia with large comitant innervational hypertropia in a case of type III Duane retraction syndrome

Indian Journal of Ophthalmology. Case Reports, 2022
The aim of this study is to report a case of hypertropia with severe globe retraction and innervational upshoot present in type III Duane retraction syndrome (DRS) and its management.
Vibha Baldev, Suma Ganesh
doaj   +1 more source

Regulating Rac in the Nervous System: Molecular Function and Disease Implication of Rac GEFs and GAPs

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Rho family GTPases, including RhoA, Rac1, and Cdc42 as the most studied members, are master regulators of actin cytoskeletal organization. Rho GTPases control various aspects of the nervous system and are associated with a number of neuropsychiatric and neurodegenerative diseases. The activity of Rho GTPases is controlled by two families of regulators,
Yanyang Bai, Xiaoliang Xiang, Chunmei Liang, Lei Shi, Akito Tanoue   +4 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Achondroplasia Associated with Bilateral Keratoconus

Case Reports in Ophthalmological Medicine, Volume 2012, Issue 1, 2012., 2012
We report a rare case of bilateral keratoconus in association with achondroplasia. A 26‐year‐old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years. Slit lamp biomicroscopy showed bilateral central corneal protrusion and stromal thinning at the apex consistent with keratoconus.
Ammar M. Al Mahmood, Hind M. Al Katan, Ghada Y. Al Bin Ali, Samar A. Al-Swailem, C.-Y. Cheng, E. Chihara   +5 more
wiley   +1 more source

Management of duane retraction syndrome

Journal of the Egyptian Ophthalmological Society, 2019
Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan, Ghada Z. El-Abedin Abd El-Rahman Rajab, Abd El-Khalik I El-Saadani, Hatem M Marey   +3 more
doaj   +1 more source

Treatment modalities in Duane’s Retraction Syndrome

International Journal of Ophthalmology, 2020
To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).This prospective study undergone in more than four years, in Alexandria, included 238 patients of DRS, including type I, 162 patients (68%), type II 12 patients (5%) and type III 64 patients (27%).
Karim A Gaballah, Dalal Shawky
openaire   +3 more sources