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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Podrobná bibliografie
Vydáno v:	Vestnik oftal'mologii Ročník 138; číslo 6; s. 116
Hlavní autoři:	Murakhovskaya, Yu K, Sheremet, N L, Shmelkova, M S, Krylova, T D, Tsygankova, P G
Médium:	Journal Article
Jazyk:	ruština
Vydáno:	Russia (Federation) 2022
Témata:	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
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Popis
Shrnutí:	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.
Bibliografie:	SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Review-1 ObjectType-Article-3
ISSN:	0042-465X
DOI:	10.17116/oftalma2022138061116