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

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.