Results 41 to 50 of about 17,313 (195)

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Impact of Cataract Surgery on Vision-related Quality of Life in Patients with Strabismus: A Quasi-experimental Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Reduction in visual acuity and glare are common indications for cataract surgery in patients with strabismus. The amblyopic eye is particularly sensitive to blur, despite reduced visual acuity and contrast sensitivity.
AB Chirag, T Sangeetha, SM Darshan
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Factors Predisposing to Amblyopia After Exotropia Surgery

Acta Medica Iranica, 2021
- Amblyopia (lazy eye) is one of the significant complications of strabismus surgery. It is the most important cause of unilateral visual impairment in both children and adults.
Qader Motarjemizadeh, Naser Samadi Aidenloo   +1 more
doaj   +1 more source

The effect of strabismus surgery on the dynamic balance in children with strabismus

Strabismus, 2023
Abstract Purpose To evaluate the effect of strabismus surgery on the dynamic balance by using computerized dynamic posturography in children with strabismus. Methods This study was designed as a prospective observational study. Hearing test and complete ophthalmological examinations were performed for all subjects.
Serpil Hülya Çapar, Emin Karaman, Eyyup Kara, Olgu Çapar, Sibel Ahmet, Halide Cetin Kara, Akın Çakır, Birsen Gökyiğit, Ahmet Ataş   +8 more
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Strabismus Accompanying Pediatric Cataracts and the Effect of Cataract Surgery on Strabismus

Türk Oftalmoloji Dergisi
Objectives: To examine the characteristics of preoperative strabismus, the impact of surgical treatment on existing strabismus, and the features of strabismus developing postoperatively in pediatric cataract patients.
Gülsüm Genç Bozhöyük, Nigar Rustamlı, Pınar Bingöl Kızıltunç, Huban Atilla   +3 more
doaj   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Capsulotomy With Supine Nd:YAG Laser in Children

Lasers in Surgery and Medicine, EarlyView.
ABSTRACT Objectives To evaluate the visual outcomes of Nd:YAG laser posterior capsulotomy performed in the supine position under general anesthesia in children with visual axis opacification after cataract surgery. Materials and Methods A retrospective clinical case series of 13 eyes of 9 children with visual axis opacification following congenital ...
Nike Klun, Manca Tekavčič Pompe
wiley   +1 more source

The distribution characteristics of strabismus surgery types in a tertiary hospital in the Central Plains region during the COVID-19 epidemic

BMC Ophthalmology
Objective This study aimed to analyze the distribution of different types of strabismus surgery in a tertiary hospital in Central China during the three-year period of the COVID-19 pandemic.
Lijuan Lang, Kexin Guo, Luxi Zhang, Jiong Zhang, Yujie Liu, Junbo Rong, Limin Xu, Zhigang Li   +7 more
doaj   +1 more source