A5026256455- Retinal Development and Disorders
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Amino Acid Enzymes and Metabolism
- Retinal and Optic Conditions
- RNA regulation and disease
- Intraocular Surgery and Lenses
- Connexins and lens biology
- Ocular Disorders and Treatments
- Retinal and Macular Surgery
- Metabolism and Genetic Disorders
- Corneal Surgery and Treatments
- Digestive system and related health
- Genetic and rare skin diseases.
- Neurological diseases and metabolism
- Glutathione Transferases and Polymorphisms
- Photoreceptor and optogenetics research
- Wnt/β-catenin signaling in development and cancer
- Ureteral procedures and complications
- Nutrition, Genetics, and Disease
- Mitochondrial Function and Pathology
- Retinal Diseases and Treatments
- Genetic Neurodegenerative Diseases
- Hormonal Regulation and Hypertension
- Retinopathy of Prematurity Studies
Intersectoral Research and Technology Complex Eye Microsurgery
2013-2023
Ministry of Health of the Russian Federation
2017-2020
Oregon Health & Science University
2019-2020
ORCID
2019
Baylor Genetics
2019
Baylor College of Medicine
2019
Central Scientific Research Institute of Traumatology and Orthopedics
2018
Purpose: The purpose of this study was to analyze the natural history and phenotypic overlap patients with microcephaly a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, TUBGCP6. Methods: Patients diagnosed congenital FEVR were included. Molecular investigations consisted targeted genetic sequencing. Data from medical records, ophthalmologic examination imaging, electroretinography, visual fields analyzed for systemic...
Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel changes ALMS1.Two originally as having achromatopsia presented mild light sensitivity, nonspecific otitis media, developmental delay during the first decade of life relatively stable ocular appearance second decade, late onset nystagmus...
Abstract Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or symptom hereditary syndromes (chromosomal monogenic). Thus, diagnostic search in some cases can be time- and cost-consuming. The most challenging situation arise when prenatal diagnosis needed during ongoing pregnancy. Case presentation A family was referred to the Research Centre for Medical Genetics (RCMG) childbirth risk prognosis at 7–8...
The article presents recent worldwide achievements in the area of diagnosis and treatment inherited retinal degenerations (IRDs) from standpoint ophthalmic genetics. Clinical studies conducted patients with Leber congenital amaurosis retinitis pigmentosa caused by biallelic mutations RPE65 gene have provided basis for future genes associated IRDs. highlight importance fundamental understanding function gene, timely study natural history disease. Currently, surgical techniques are being...
Abstract Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel biallelic changes ALMS1. Case presentation Two originally as having achromatopsia presented mild light sensitivity, nonspecific otitis media, developmental delay during the first decade of life relatively stable ocular...
Purpose. Retrospective genetic counseling analysis of patients with hereditary retinal diseases. Material and methods. The study is based on an analysis of molecular studies of DNA samples 82 patients: Stargardt disease (n=37), Fundus Flavimaculatus (n=34), Best vitelliform macular dystrophy (n=11). All patients had a comprehensive ophthalmologic clinical functional examination. Geneticist physician conducted genealogical analysis. Search for mutations at each clinical form the was carried...
Purpose. To evaluate the results in genetic consulting of patients with various forms congenital and hereditary eyes pathology. Material methods. The study is based on an analysis molecular investigations DNA samples 18 patients: corneal dystrophy (n=3); cataract (n=11); Norrie disease (n = 4). All had a comprehensive ophthalmologic clinical functional examination according to Geneticist physician conducted genealogical analysis. A of exons flanking intronic regions was performed using...
Achromatopsia is a congenital autosomal recessive disorder characterized by decreased or absent cone’s function. Clinical symptoms include photophobia, nystagmus, low best corrected visual acuity, complete incomplete color vision. Mutations in the CNGA3 and CNGB3 genes are responsible for approximately 70–80 % of all achromatopsia cases. The purpose: to evaluate results comprehensive clinical genetic examinations four patients with an established diagnosis achromatopsia. Onset disease was...
Abstract Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel biallelic changes ALMS1. Case presentation Two originally as having achromatopsia presented mild light sensitivity, nonspecific otitis media, developmental delay during the first decade of life relatively stable ocular...
Abstract Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel biallelic changes ALMS1. Case presentation Two originally as having achromatopsia presented mild light sensitivity, nonspecific otitis media, developmental delay during the first decade of life relatively stable ocular...
Abstract Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel changes ALMS1.
«Российская офтальмология онлайн» - электронное информационное издание, создается с 1 марта 2010 года под эгидой Российского общества офтальмологов. Основная задача проекта научно-информационная поддержка специалистов в области офтальмологии.
We present a clinical case of Norrie disease in 6-year-old boy. The parents had time an ophthalmologist consultation when the child was 4 months old, but final diagnosis made more than 5 years later. A specific feature this addition to vitreoretinopathy and bilateral retinal detachment presence congenital malformation iris - aniridia, which is not typical sign disease. modern method genetic testing (next generation sequencing NGS) it possible detect previously undescribed mutation NDP gene...