Results 51 to 60 of about 309,795 (229)

Mutation screening of α-crystallin mutations in congenital cataract patients

Delhi Journal of Ophthalmology, 2011
Purpose: To screen α-crystallin (CRYAA) gene in congenital cataract patients and controls. Methods: Fifty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P.
Manoj Kumar, Rima Dada, Tushar Agarwal, Sudarshan Khokhar   +3 more
doaj   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Cirurgia de catarata congênita com implante de lente intraocular em olhos microftálmicos: resultados visuais e complicações [PDF]

, 2013
PURPOSE: To report the visual outcomes and complications of congenital cataract surgery with primary intraocular lens implantation in microphthalmic eyes of children younger than 4 years of age.
Ventura, Marcelo Carvalho, Ventura, Bruna Vieira, Nosé, Walton [UNIFESP], Ventura, Liana Oliveira, Sampaio, Virgínia Vilar   +4 more
core   +1 more source

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene

Orphanet Journal of Rare Diseases, 2023
Background Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts ...
Kai-Jie Wang, Jue-Xue Wang, Jin-Da Wang, Meng Li, Jing-Shang Zhang, Ying-Yan Mao, Xiu-Hua Wan   +6 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

DIFFERENCES BETWEEN PEDIATRIC PATIENTS WITH CONGENITAL CATARACT AND THOSE WITH NON-CONGENITAL CATARACT IN SAUDI ARABIA

, 2021
Purpose: The study aimed to determine differences in age of presentation, unilateral or bilateral disease, gender, and follow-up after surgery between patients with congenital cataract and those with non-congenital cataract.
Hisham Alghanmi, Abdullah Hefni, Abdullah Azouz, Hussain Iraqi, Dr. Wedad Bardisi
core   +1 more source

Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2 [PDF]

, 2016
PURPOSE: To describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile cataract in the first 2 years of life.
British Isles Congenital Cataract Interest Group, ., Russell-Eggitt, I, Solebo, AL, Cumberland, P, Rahi, JS   +4 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Peribulbar versus retrobulbar anaesthesia for cataract surgery. [PDF]

, 2008
BACKGROUND: Cataract is a major cause of blindness worldwide. Unless medically contraindicated, cataract surgery is usually performed under local (regional) anaesthesia.
Henry OD Ejere, Kyari, Fatima, Ejere, HOD, Alhassan, Mahmoud Babanini, Mahmoud B Alhassan, Fatima Kyari, Alhassan, MB, Ejere, Henry Od, Kyari, F, Archila Tibaduiza, Leidy Johanna   +9 more
core   +1 more source