Results 11 to 20 of about 309,795 (229)
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Türk Oftalmoloji Dergisi, 2021 Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis.
Hande Taylan Şekeroğlu +1 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
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 +12 more
core +5 more sources
Studies on a murine model of congenital toxoplasmosis : vertical disease transmission only occurs in BALB/c mice infected for the first time during pregnancy [PDF]
, 1992 The incidence of congenital toxoplasmosis was determined by an ELISA in the litters of BALB/c mice which had been infected 8 weeks before mating, on day 12 of pregnancy, or on both these occasions.
Roberts, C W +2 more
core +4 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
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
doaj +1 more source
Infective Etiologies in Patients with Bilateral Congenital Cataract
Pakistan Armed Forces Medical Journal, 2023 Objective: To determine the frequency of positive Toxoplasma, Rubella, Cytomegalovirus, Herpes Simplex virus and Syphilis serology in patients with bilateral congenital cataract and their correlation with different type of cataracts and age groups ...
Abdul Qadir +5 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
Surgery for congenital cataract.
Community eye health, 2004 The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery.
David Yorston FRCS FRCOphth
openaire +3 more sources
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