Results 31 to 40 of about 1,003 (155)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
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

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 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

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 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

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

Strabismus surgery in Angelman syndrome: More than ocular alignment.

PLoS ONE, 2020
PurposeTo report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between ...
Paola Michieletto, Stefano Pensiero, Laura Diplotti, Luca Ronfani, Manuela Giangreco, Alberto Danieli, Paolo Bonanni   +6 more
doaj   +1 more source

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

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