Autosomal recessive optic neuropathies: genetic variants, clinical manifestations

Hereditary optic neuropathies (HON) - a group of neurodegenerative diseases characterized by primary loss of structure and function of the retinal ganglion cells and subsequent death of their axons, development of partial optic nerve atrophy. Autosomal dominant optic neuropathy and Leber`s hereditar...

Full description

Saved in:

Bibliographic Details
Published in:	Vestnik oftal'mologii Vol. 138; no. 6; p. 116
Main Authors:	Murakhovskaya, Yu K, Sheremet, N L, Shmelkova, M S, Krylova, T D, Tsygankova, P G
Format:	Journal Article
Language:	Russian
Published:	Russia (Federation) 2022
Subjects:	Carrier Proteins - genetics DNA, Mitochondrial Humans Membrane Proteins - genetics Mitochondrial Proteins - genetics Mutation Optic Atrophy Optic Atrophy, Hereditary, Leber - diagnosis Optic Atrophy, Hereditary, Leber - genetics Optic Nerve - pathology Optic Nerve Diseases - diagnosis Optic Nerve Diseases - genetics autosomal recessive optic neuropathies hereditary optic neuropathies mitochondrial optic neuropathies dominant optic atrophy Leber’s hereditary optic neuropathy recessive optic atrophy non-syndromic autosomal recessive optic neuropathies
ISSN:	0042-465X
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!