Results 11 to 20 of about 40,082 (242)
Study of congenital Morgagnian cataracts in Holstein calves. [PDF]
PLoS ONE, 2019 Cataracts are focal to diffuse opacities of the eye lens causing impaired vision or complete blindness. For bilateral congenital cataracts in Red Holsteins a perfectly cosegregating mutation within the CPAMD8 gene (CPAMD8:g.5995966C>T) has been reported.
Marina Braun +9 more
doaj +3 more sources
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +7 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Journal of Ophthalmology, 2020 Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited.
Bin Li +7 more
doaj +1 more source
Development of a potent embryonic chick lens model for studying congenital cataracts in vivo
Communications Biology, 2021 Li et al. report an embryonic chick lens model to study the onset of congenital cataracts. By injecting recombinant retrovirus containing mutants that cause congenital cataract in lumen of embryonic chick lens, they show that their model exhibits ...
Zhen Li +4 more
doaj +1 more source
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 +4 more
doaj +1 more source
Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]
, 2003 A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G. +6 more
core +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 +3 more
doaj +1 more source
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
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. [PDF]
, 2005 AIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract.
McKay, James D +9 more
core +1 more source