Results 51 to 60 of about 1,255,392 (234)

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

The psychosocial benefits of corrective surgery for adults with strabismus

, 2006
Background: Few papers have addressed the psychological impact of strabismus in adults, with none comparing preoperative and postoperative data using standardised questionnaires relating surgical results and psychosocial outcomes.
Jackson, Sue, Morris, M., Harrad, R. A., Rumsey, Nichola   +3 more
core   +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

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

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

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

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