Results 1 to 10 of about 40,082 (242)
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. [PDF]
PLoS ONE, 2013 Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract.
Alpana Dave +9 more
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Mutation screening of γ-crystallin gene in congenital cataract patients from North India [PDF]
Indian Journal of OphthalmologyPurpose: The present study screened eight families (comprising 25 affected and unaffected individuals, along with ten unrelated controls) to identify known and potentially novel mutations in the human γ-crystallin (CRYG) genes using Sanger bidirectional ...
Aal E Fatima +2 more
doaj +2 more sources
Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A [PDF]
Frontiers in MedicineBackgroundCongenital cataract refers to lens opacity present at birth or progressively developing in the neonatal period, caused by inherited genetic abnormalities or developmental disorders. The etiology of congenital cataract is multifactorial, and its
Shuying Ma +5 more
doaj +2 more sources
Annals of Medicine, 2022 Purpose To investigate the age at recognition and presentation for surgery for congenital and developmental cataract at Kazakh Eye Research Institute in Kazakhstan.Methods A retrospective review of children aged 0–18 years, who presented with congenital ...
Aliya Kabylbekova +4 more
doaj +1 more source
Disruption of PIKFYVE causes congenital cataract in human and zebrafish
eLife, 2022 Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children.
Shaoyi Mei +9 more
doaj +1 more source
Frontiers in Genetics, 2022 Purpose: Congenital cataract (CC) is a common disease resulting in leukocoria and the leading cause of blindness in children worldwide. Approximately 50% of congenital cataract is inherited.
Yunxia Gao +10 more
doaj +1 more source
Construction and Preliminary Application of a Rncat Congenital Cataract Mouse Model
Shiyan dongwu yu bijiao yixue, 2021 Congenital cataract is the main cause of blindness in children. The Center for Disease Control and Prevention of Xinjiang Uygur Autonomous Region successfully constructed mouse models of congenital cataracts.
ZHANG Yan, YAN Shunsheng
doaj +1 more source
Keratometric measurements of cornea in first three years of life in children with congenital cataract [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2008 INTRODUCTION Keratometry is a measurement curvature of the central 2-3mm of the anterior cornea and main meridians (horizontal and vertical) and secondary calculation of the full optic power of the cornea.
Marjanović Ivan +2 more
doaj +1 more source
BMC Ophthalmology, 2022 Background The purpose of this study was to identify changes in tear film function and meibomian gland function in children after congenital/developmental cataract surgery.
Xiaolei Lin +6 more
doaj +1 more source
Juxta: Jurnal Ilmiah Mahasiswa Kedokteran Universitas Airlangga, 2019 Introduction: Congenital cataract is a leading cause of childhood blindness. Congenital cataract is characterized by an opacification of the lens that has existed from birth or shortly after birth.
Lady Sherly Nuramalia +2 more
doaj +1 more source