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...

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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
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Summary: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 hereditary optic neuropathy until recently were considered the most common genetic hereditary optic neuropathies, while autosomal recessive optic neuropathies (ARON) were described as rare types of HON, usually accompanying severe syndromic pathologies. In the 2000s it has become clear that ARON occur significantly more often, are underestimated, and their clinical variability is poorly studied. Despite the fact that non-syndromic ARON are less common than syndromic optic neuropathies, their contribution to the development of isolated hereditary optic neuropathies should be considered. This article presents a literature review on non-syndromic ARON developing as a result of mutations in the genes.
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ISSN:0042-465X
DOI:10.17116/oftalma2022138061116