Results 111 to 120 of about 384,143 (185)

Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families

Frontiers in Genetics
IntroductionCongenital cataract is a major cause of blindness and severe visual impairment in children. It may occur as an isolated ocular abnormality or in combination with microcornea, microphthalmia, aniridia, or glaucoma.
Teng Huang, Teng Huang, Hai-Sen Sun, Ya-Nan Liu, Qiu-Ling Xie, Yang Liu, Xue-Chuan Miao, Wenhui Wu, Jin Li   +8 more
doaj   +1 more source

The PITX3 gene in posterior polar congenital cataract in Australia

, 2006
Purpose: Congenital cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract.
Russell-Eggit, IM (15506621), David Mackey (14743045), Bhatti, S (15506624), Craig, JE (15485495), Burdon, KP (15506618), McKay, JD (15484067), Ruddle, JB (15506627), Wirth, MG (15494618), Dimasi, D (15506630)   +8 more
core   +1 more source

Variants and genotype-phenotype correlation of CRYBB2 gene in eight Chinese families with congenital cataract and other congenital ocular anomalies

BMC Ophthalmology
Objective The aim of this study is to explore the clinical phenotypes of congenital cataract caused by CRYBB2 variants and the surgical prognosis, so as to establish the association between the CRYBB2 gene and the genetic phenotypes of congenital ...
Hongfang Zhang, Fangyi Tian, Pingjun Chang, Dandan Wang, Yinying Zhao, Siyan Li, Ruiwen Zhang, Yun-e Zhao   +7 more
doaj   +1 more source

A case series of hereditary congenital cataract

, 2020
Congenital cataract is a major cause of preventable blindness in children. It can be either hereditary or non-hereditary. In this case series, we present three cases of congenital cataract with a strong family history.
Jawatankuasa Kerja PSM UPM 3
core  

Summary of the known congenital cataract causing mutations in the EPHA2 gene.

, 2013
Summary of the known congenital cataract causing mutations in the EPHA2 gene.
David A. Mackey (45648), Paul Mitchell (103717), Shiwani Sharma (450733), Kate Laurie (450731), Sandra E. Staffieri (216503), Deepa Taranath (450732), Kathryn P. Burdon (45649), Alpana Dave (450730), Jie Jin Wang (103779), Jamie E. Craig (45644)   +9 more
core   +1 more source

MEDICAL SOCIAL CHARACTERISTICS OF REHABILITATION OPPORTUNITIES IN MODERN SURGERY OF CONGENITAL CATARACT WITH A PRIMARY IOL IMPLANTATION IN CHILDREN OF THE FIRST YEAR OF LIFE

Офтальмохирургия, 2015
Purpose. To study medical social rehabilitation possibilities of the congenital cataract surgery with primary IOL implantation in children of thoracal age.Material and methods.
A. V. Vasiliev, V. V. Egorov, G. P. Smoliakova   +2 more
doaj  

Individuals born with congenital cataracts exhibit both persisting impairment and considerable recovery of white matter microstructure after sight restoration

Aperture Neuro
Individuals born with dense bilateral cataracts, for whom sight was restored later in life (congenital cataract reversal individuals), provide a unique opportunity to explore the impact of early (visual) experience on the development of the human brain.
Jordan D. Hassett, Cordula Hölig, Sunitha Lingareddy, Ramesh Kekunnaya, Brigitte Röder   +4 more
doaj   +1 more source

Herpes simplex virus-1--associated congenital cataract

, 2004
PURPOSE: To report association of herpes simplex virus-type 1 (HSV-1) in four cases of congenital cataract. DESIGN: Prospective interventional case series. METHODS: Four infants younger than 12 months, presenting with unilateral or bilateral congenital
Subhan, Shaheen, Raghu, Hari, Gangopadhyay, Nibaran, Bhende, Jyoti, Sharma, Savitri, Jose, Roby J.   +5 more
core   +1 more source

Congenital cataract with LSS gene mutations: a new case report

, 2017
Background:Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.Case presentation:We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis,
Li Liu, Xiaodan Chen
core   +1 more source

Congenital cataract

, 2021
Zmelonek-Znamirowska Anna, Wolder Daniel, Komar-Gruszka Karolina, Gruszka Jakub, Zwierzyńska Anna, Adamczyk-Gruszka Olga. Congenital cataract. Journal of Education, Health and Sport. 2021;11(12):190-196. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2021.11.12.012 https://apcz.umk.pl/JEHS/article/view/JEHS.2021.11.12.012 https://zenodo.org ...
Zmelonek-Znamirowska, Anna, Wolder, Daniel, Komar-Gruszka, Karolina, Gruszka, Jakub, Zwierzyńska, Anna, Adamczyk-Gruszka, Olga   +5 more
openaire   +1 more source