Абиотрофия сетчатки при митохондриальной патологии. NARP-синдром (описание клинического случая)

Abstract

Purpose : to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the\xa0mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material\xa0 and methods . The results of a clinical molecular genetic examination of the patient’s family, undertaken in order to clarify\xa0the diagnosis and determine the genetic risk, are presented. The family was found to have an isolated pathology of the eye.\xa0 Results . DNA studies by MLPA method and the analysis of clinical data in the family revealed a hereditary syndromic\xa0pathology which caused changes in the eyes. The inheritance type was found to be maternal. Conclusion . NARP syndrome\xa0 is a syndrome with the maternal type of inheritance in which retinal abiotrophy is primarily associated with the mutation\xa0m.8993T>G mtDNA and can be considered as the main diagnostic feature among other clinical manifestations. The case\xa0demonstrates the difficulties of diagnosing hereditary syndromes accompanied by eye pathology.