helmholtzeyeinstituteРоссийский офтальмологический журналRussian Ophthalmological Journal2072-00762587-5760Real time Publishers10.21516/2072-0076-2019-12-1-97-101helmholtzeyeinstitute-230Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУFOR OPHTHALMOLOGY PRACTITIONERSАбиотрофия сетчатки при митохондриальной патологии. NARP-синдром (описание клинического случая)Retinal abiotrophy in mitochondrial pathology: NARP sindrome (a clinical case)ХлебниковаО. В.KhlebnikovaO. V.

д-р мед. наук, ведущий научный сотрудник

115522, Москва, ул. Москворечье, д. 1

Dr. Med. Sci., leading researcher

1, Moskvorechye St., Moscow, 115522, Russia

ШарковаИ. В.SharkovaI. V.

 канд. мед. наук, старший научный сотрудник

115522, Москва, ул. Москворечье, д. 1

Cand. Med. Sci., senior researcher

1, Moskvorechye St., Moscow, 115522, Russia

sharkova-inna@rambler.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation20191503201912197101Copyright © Хлебникова О.В., Шаркова И.В., 20192019Хлебникова О.В., Шаркова И.В.Khlebnikova O.V., Sharkova I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://roj.igb.ru/jour/article/view/230

Цель работы — описание больного с абиотрофией сетчатки при митохондриальной патологии (синдром NARP), обусловленной мутацией m.8993T>G в гене АТФ-азы, тип 6, для улучшения диагностики наследственных абиотрофий. Представлены результаты клинико-молекулярно-генетического обследования семьи, направленной с изолированной патологией органа зрения для уточнения диагноза и определения генетического риска. С помощью ДНК-исследований методом MLPA и анализа клинических данных в семье установлена наследственная синдромная патология, приведшая к изменению состояния глаз. Определен материнский тип наследования. Заключение. Синдром NARP — это синдром с материнским типом наследования, при котором абиотрофия сетчатки среди других клинических проявлений является основным диагностическим признаком и связана в основном с мутацией m.8993T>G мтДНК. Этот пример демонстрирует трудности диагностики наследственных синдромов, сопровождающихся патологией глаз.

Purpose: to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material and methods. The results of a clinical molecular genetic examination of the patient’s family, undertaken in order to clarify the diagnosis and determine the genetic risk, are presented. The family was found to have an isolated pathology of the eye. Results. DNA studies by MLPA method and the analysis of clinical data in the family revealed a hereditary syndromic pathology which caused changes in the eyes. The inheritance type was found to be maternal. Conclusion. NARP syndrome is a syndrome with the maternal type of inheritance in which retinal abiotrophy is primarily associated with the mutation m.8993T>G mtDNA and can be considered as the main diagnostic feature among other clinical manifestations. The case demonstrates the difficulties of diagnosing hereditary syndromes accompanied by eye pathology.

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The authors declare that there are no conflicts of interest present.