Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia

Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common dise...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	S. V. Averianova, T. N. Iureva
Formato:	article
Lenguaje:	RU
Publicado:	Scientific Сentre for Family Health and Human Reproduction Problems 2019
Materias:	retinal pigment abiotrophy usher syndrome genetic types of inheritance inbreeding “closed” communities Science Q
Acceso en línea:	https://doaj.org/article/8586ee721b5642908ff8f1361f06df1d
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:8586ee721b5642908ff8f1361f06df1d
record_format	dspace
spelling	oai:doaj.org-article:8586ee721b5642908ff8f1361f06df1d2021-11-23T06:14:42ZGenetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia2541-94202587-959610.29413/ABS.2019-4.4.5https://doaj.org/article/8586ee721b5642908ff8f1361f06df1d2019-08-01T00:00:00Zhttps://www.actabiomedica.ru/jour/article/view/2119https://doaj.org/toc/2541-9420https://doaj.org/toc/2587-9596Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common disease of all dystrophies of the retina.Aim. To do a clinical genealogical analysis of the type of inheritance of pigmentary retinitis in residents of Tarbagatai region of the Republic of Buryatia.Material and methods. At the first stage of the study, a round between the residents of Tarbagatai region of the Republic of Buryatia was conducted by interviewing and questioning. At the second stage, people with suspected pigment retinitis and their blood relatives underwent a full ophthalmologic examination to confirm the diagnosis, and a thorough collection of genealogical information was carried out to determine the type of inheritance.Results. 20 patients were allocated from 12 families of 1237 interviewed people aged 15 to 76 years living in a closed community in the territory of Buryatia in the Tarbagatai region, 12 of them with a presumptive diagnosis of retinitis pigmentosa, with signs of Usher syndrome (retinitis pigmentosa + sensorineural hearing loss) – 8 people. In general, the analysis of 20 pedigrees with an established type of inheritance in 89.9 % of cases revealed an autosomal recessive type; in 10.1 % – autosomal dominant type of retinitis pigmentosa.Conclusion. A complete collection of genealogical history is the basis for the diagnosis of hereditary eye diseases.S. V. AverianovaT. N. IurevaScientific Сentre for Family Health and Human Reproduction Problemsarticleretinal pigment abiotrophyusher syndromegenetic types of inheritanceinbreeding“closed” communitiesScienceQRUActa Biomedica Scientifica, Vol 4, Iss 4, Pp 36-40 (2019)
institution	DOAJ
collection	DOAJ
language	RU
topic	retinal pigment abiotrophy usher syndrome genetic types of inheritance inbreeding “closed” communities Science Q
spellingShingle	retinal pigment abiotrophy usher syndrome genetic types of inheritance inbreeding “closed” communities Science Q S. V. Averianova T. N. Iureva Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
description	Retinal pigment abiotrophy is a hereditary disease with a primary diffuse lesion of photoreceptors and the retinal pigment epithelium, in which characteristic functional changes and a typical picture of the fundus with pigment bone bodies are noted. Retinal pigment abiotrophy is the most common disease of all dystrophies of the retina.Aim. To do a clinical genealogical analysis of the type of inheritance of pigmentary retinitis in residents of Tarbagatai region of the Republic of Buryatia.Material and methods. At the first stage of the study, a round between the residents of Tarbagatai region of the Republic of Buryatia was conducted by interviewing and questioning. At the second stage, people with suspected pigment retinitis and their blood relatives underwent a full ophthalmologic examination to confirm the diagnosis, and a thorough collection of genealogical information was carried out to determine the type of inheritance.Results. 20 patients were allocated from 12 families of 1237 interviewed people aged 15 to 76 years living in a closed community in the territory of Buryatia in the Tarbagatai region, 12 of them with a presumptive diagnosis of retinitis pigmentosa, with signs of Usher syndrome (retinitis pigmentosa + sensorineural hearing loss) – 8 people. In general, the analysis of 20 pedigrees with an established type of inheritance in 89.9 % of cases revealed an autosomal recessive type; in 10.1 % – autosomal dominant type of retinitis pigmentosa.Conclusion. A complete collection of genealogical history is the basis for the diagnosis of hereditary eye diseases.
format	article
author	S. V. Averianova T. N. Iureva
author_facet	S. V. Averianova T. N. Iureva
author_sort	S. V. Averianova
title	Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
title_short	Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
title_full	Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
title_fullStr	Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
title_full_unstemmed	Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia
title_sort	genetic types of inheritance of retinal pigment abiotrophy in patients living in “closed” communities in the republic of buryatia
publisher	Scientific Сentre for Family Health and Human Reproduction Problems
publishDate	2019
url	https://doaj.org/article/8586ee721b5642908ff8f1361f06df1d
work_keys_str_mv	AT svaverianova genetictypesofinheritanceofretinalpigmentabiotrophyinpatientslivinginclosedcommunitiesintherepublicofburyatia AT tniureva genetictypesofinheritanceofretinalpigmentabiotrophyinpatientslivinginclosedcommunitiesintherepublicofburyatia
_version_	1718416956092055552

Genetic Types of Inheritance of Retinal Pigment Abiotrophy in Patients Living in “Closed” Communities in the Republic of Buryatia

Ejemplares similares