Results 31 to 40 of about 309,795 (229)

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 ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +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

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

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

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

Years of sunlight exposure and cataract: a case-control study in a Mediterranean population. [PDF]

, 2007
BACKGROUND: We aimed to investigate the relation between sunlight exposure and risk of cataract. METHODS: We carried out a frequency-matched case-control study of 343 cases and 334 controls attending an ophthalmology outpatient clinic at a primary health-
Pastor-Valero, María, Fletcher, Astrid E, de Stavola, Bianca L, Chaqués-Alepúz, Vicente   +3 more
core   +2 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

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

Study of congenital Morgagnian cataracts in Holstein calves.

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, Ann-Kathrin Struck, Sina Reinartz, Maike Heppelmann, Jürgen Rehage, Johanna Corinna Eule, Malgorzata Ciurkiewicz, Andreas Beineke, Julia Metzger, Ottmar Distl   +9 more
doaj   +1 more source