Towards the matter of genetic consulting in various forms of congenital and hereditary eye diseases

Towards the matter of genetic consulting in various forms of congenital and hereditary eye diseases

Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology.Material and methods. The study is based on an analysis of results in genetic consulting and molecular genetic investigations of DNA samples of 18 patients: congenital co...

Full description

Bibliographic Details
Main Authors:	B. E. Malyugin, S. A. Borzenok, O. V. Khlebnikova, M. F. Shurygina, P. M. Arbukhanova, A. N. Loginova, E. G. Polyanskaya, O. P. Antonova
Format:	Article
Language:	Russian
Published:	Publishing house "Ophthalmology" 2016-05-01
Series:	Офтальмохирургия
Subjects:	genetic consulting congenital endothelial corneal dystrophy congenital cataract norrie disease gene slc4a11 gene gja8
Online Access:	https://www.ophthalmosurgery.ru/jour/article/view/233

Similar Items

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
by: Li Wang, et al.
Published: (2016-01-01)

Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts
by: Masoumeh Mohebi, et al.
Published: (2017-03-01)

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
by: Shazia Micheal, et al.
Published: (2018-02-01)

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
by: Dandan Li, et al.
Published: (2020-11-01)

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract
by: Vanita Berry, et al.
Published: (2020-05-01)

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
by: Naihong Yan, et al.
Published: (2019-03-01)

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts
by: Han-Yi Min, et al.
Published: (2016-01-01)

Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family
by: Chao Shen, et al.
Published: (2017-05-01)

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract
by: Mingzhou Zhang, et al.
Published: (2020-03-01)

Results of phacoemulsification with IOL implantation in patients with Fuchs endothelial corneal dystrophy
by: B. E. Malyugin, et al.
Published: (2018-11-01)

Congenital Hereditary Endothelial Dystrophy with Valvular Heart Disease: A Case Report
by: Tolulope Ogundele, et al.
Published: (2021-01-01)

Molecular genetics of congenital cataract
by: Zi-Xun Song, et al.
Published: (2013-08-01)

Modified descemet′s stripping automated endothelial keratoplasty for congenital hereditary endothelial dystrophy
by: Mahmoodreza Panahi-Bazaz, et al.
Published: (2014-01-01)

Bilateral dissociated vertical deviation in a case of congenital hereditary endothelial dystrophy
by: Bhola Rahul, et al.
Published: (2006-01-01)

Clinical and genetic aspects of hereditary corneal dystrophies
by: B. E. Malyugin, et al.
Published: (2016-01-01)

Clinical genetics and gene mapping studies on a family in the area of northeast with hereditary cataract
by: Tian-Xiao Zhang, et al.
Published: (2013-06-01)

Advances in study on mutations of congenital cataract-related lens protein genes
by: Yue Hai, et al.
Published: (2021-06-01)

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
by: Zixun Song, et al.
Published: (2018-10-01)

The relevance of genetic counseling in various forms of hereditary retinal dystrophies
by: B. E. Malyugin, et al.
Published: (2016-07-01)

A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder–Sengers Syndrome
by: Rajesh V Prabu, et al.
Published: (2020-01-01)

Mutation analysis of a family affected with congenital aniridia and congenital cataract
by: Jing Chen, et al.
Published: (2019-08-01)

Changes of central corneal thickness after congenital cataract surgery and its effect on intraocular pressure measurement
by: Jiao-Jiao Kou, et al.
Published: (2019-11-01)

Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium
by: Wenlin Zhang, et al.
Published: (2017-02-01)

A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees
by: Su-Ping Cai, et al.
Published: (2021-06-01)

Prenatal diagnosis of congenital and hereditary diseases
by: E N Zarubina, et al.
Published: (2003-04-01)

Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
by: Cláudia Teles Silva, et al.
Published: (2019-01-01)

Two novel GJA1 variants in oculodentodigital dysplasia
by: Nikolai P. Pace, et al.
Published: (2019-09-01)

Research progress on genetic mutation of congenital cataract
by: Ya-Nan Ji, et al.
Published: (2020-02-01)

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
by: Padhy SK, et al.
Published: (2020-11-01)

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
by: Chunyun Fu, et al.
Published: (2016-02-01)

Ocular manifestations of congenital rubella syndrome in a developing country.
by: Vijayalakshmi P, et al.
Published: (2002-01-01)

Comparison of two different surgical ways on congenital cataract
by: Le-Qiang Wei
Published: (2014-07-01)

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts
by: Feng-Tao Dang, et al.
Published: (2016-11-01)

Axial length and corneal curvature in patients with congenital cataract
by: Jin-Chao Liu, et al.
Published: (2019-09-01)

Clinical observation of double capsulorhexis and dry anterior vitrectomy in congenital cataract
by: Xiao-Li Pu, et al.
Published: (2014-05-01)

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing
by: Fan Fan, et al.
Published: (2020-09-01)

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
by: Shan Li, et al.
Published: (2019-12-01)

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
by: Xiaoyan Huang, et al.
Published: (2017-01-01)

Clinical and genetic characteristics of congenital muscular dystrophies (part 2)
by: P. A. Chausova, et al.
Published: (2020-08-01)

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0–25 with Bilateral Cataracts
by: Suzannah Bell, et al.
Published: (2021-01-01)