Results 21 to 30 of about 384,143 (185)

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

EPHA2 Polymorphisms and Age-Related Cataract in India [PDF]

, 2012
Objective: We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods: We carried out a population-based genetic association study. We enumerated randomly
Maraini, G, Shanker, A, Fletcher, AE, Talwar, B, Hejtmancik, JF, Sundaresan, P, Ravindran, RD, Nonyane, BAS, Vashist, P, Smeeth, Liam, Camparini, M, Nitsch, D, Chakravarthy, U   +12 more
core   +3 more sources

Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report

Egyptian Journal of Medical Human Genetics, 2022
Background Autosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness. This inherited disorder is one of the major visual health concerns in infants.
Raed Abdulelah Al-Badran, Adnan Issa Al-Badran, Hadideh Mabudi, Mostafa Neissi, Javad Mohammadi-Asl   +4 more
doaj   +1 more source

Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome

Delhi Journal of Ophthalmology, 2018
Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3.
Sonal Patil, Kalpna Jain, Jaishri Murli Manoher, Vimla Beniwal   +3 more
doaj   +1 more source

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A, Hilal, L., Cherif Chefchaouni, M., Slingsby, Christine, Hajaji, Y, Basak, Ajit K., Arbogast, L., Abitbol, Marc, M, Nandrot, E., Cherif-Chefchaouni, M, Benazzouz, B, Boutayeb, S, Boutayeb, S., Berraho, A., Hilal, Latifa, Abitbol, M., Arbogast, Laurence, Hajaji, Y., Gribouval, O., Benazzouz, B., Abitbol, Marc,, Nandrot, Emeline, Gribouval, Olivier   +22 more
core   +1 more source

Congenital cataract screening

Journal of Ophthalmic and Vision Research, 2016
Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (
Zhale Rajavi, Hamideh Sabbaghi
openaire   +3 more sources

Clinical Profile of Congenital and Developmental Cataract in a Tertiary Care Centre of Southern India [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Cataract is an important cause of preventable blindness in children. Early detection and management of congenital cataracts is of extreme importance due to the risk of amblyopia and visual morbidity.
Sumana J Kamath, Tina Anne John, Kalary Jayanthi   +2 more
doaj   +1 more source

A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees [PDF]

International Journal of Ophthalmology, 2021
AIM: To investigate the causal gene mutation and clinical characteristics for two Chinese families with autosomal dominant congenital coralliform cataract. METHODS: Two Chinese pedigrees with congenital cataract were investigated.
Su-Ping Cai, Lan Lu, Xi-Zhen Wang, Yun Wang, Fen He, Ning Fan, Jing-Ning Weng, Jun-Hua Zhang, Xu-Yang Liu   +8 more
doaj   +1 more source

gene in an Original Braunvieh calf with congenital cataract [PDF]

, 2022
Inherited forms of cataract are a heterogeneous group of eye disorders known in livestock species. Clinicopathological analysis of a single case of impaired vision in a newborn Original Braunvieh calf revealed nuclear cataract. Whole-genome sequencing of
Udo Hetzel, Sonja Wolf‐Hofstetter, Cord Drögemüller, Franz R. Seefried, Seefried, Franz R., Christina Casola, Häfliger, Irene M., Wolf-Hofstetter, Sonja, Casola, Christina, Hetzel, Udo, Drögemüller, Cord, Irene M. Häfliger, Wolf‐Hofstetter, Sonja   +12 more
core   +2 more sources

Expression of lens-related microRNAs in transparent infant lenses and congenital cataract

International Journal of Ophthalmology, 2017
AIM: To identify the expression of lens-related microRNAs (miRNAs) in the central epithelium of transparent infant lenses and congenital cataract. METHODS: Lens-related miRNAs were retrieved from PubMed database. The expression levels of these miRNAs in
Chang-Rui Wu, Min Ye, Li Qin, Yue Yin, Cheng Pei   +4 more
doaj   +1 more source