Results 51 to 60 of about 19,671 (241)

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

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

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

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

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

One-muscle strabismus surgery: A review

, 2018
Proper management of a patient with small to moderate horizontal deviations continues to be challenging for the strabismus surgeon. The use of one-muscle surgery for comitant strabismus has been controversial because of concerns that it may result in a ...
Nelson L. B., Gurland J., Vagge A.
core   +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

Rates of Reoperation in Duane Retraction Syndrome

Ophthalmology Science
Purpose: To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS). Design: Retrospective cohort analysis. Participants: An insurance claims data set was used to identify patients
Han Woong Lim, MD, PhD, Bryce Hwang, MD, Cyril Archambault, MD, Scott R. Lambert, MD   +3 more
doaj   +1 more source