Long-term changes in morphological and functional parameters of the optic nerve in patients with various genetic variants of hereditary optic neuropathies

Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON) are degenerative diseases of the optic nerve caused by mutations in nuclear or mitochondrial DNA (nDNA, mtDNA). The clinical picture of these diseases is similar, but there are some differences in how the...

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Vydané v:Vestnik oftal'mologii Ročník 139; číslo 6; s. 77
Hlavní autori: Murakhovskaya, Yu K, Andreeva, N A, Tsygankova, P G, Krylova, T D, Sheremet, N L
Médium: Journal Article
Jazyk:Russian
Vydavateľské údaje: Russia (Federation) 2023
Predmet:
DNA, Mitochondrial - genetics
Humans
Mutation
Optic Atrophy, Hereditary, Leber - diagnosis
Optic Atrophy, Hereditary, Leber - genetics
Optic Nerve
Prognosis
autosomal recessive optic neuropathy
Leber’s hereditary optic neuropathy
vision recovery
mitochondrial optic neuropathies
ISSN:0042-465X
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Shrnutí:Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON) are degenerative diseases of the optic nerve caused by mutations in nuclear or mitochondrial DNA (nDNA, mtDNA). The clinical picture of these diseases is similar, but there are some differences in how the visual functions change in patients with different molecular genetic variants of hereditary optic neuropathies (HON). This study evaluates the long-term changes in morphological and functional parameters in patients with different genetic variants of HON. The study included 84 patients (165 eyes) with a genetically confirmed LHON or ARON diagnosis. The patients underwent best-corrected visual acuity (VA) test, color vision (CV) examination, computerized perimetry using the program for low vision assessment, optical coherence tomography (OCT). Over the course of the follow-up (60 months or longer) HON patients were revealed to have higher VA in c.152A>G and m.14484T>C mutations compared to mutations m.11778G>A and m.3460G>A. The final VA 0.5 or higher in patients with c.152A>G and m.14484T>C mutations in 54 and 71% of cases, and only in 6 and 13% of cases - with m.11778G>A and m.3460G>A mutations. Direct correlation was determined between minimal VA in the first year after disease onset and the final VA (K=0.67; <0.001). In all patients with the investigated mutations CV recovered slightly quicker than VA. HON associated with c.152A>G and m.14484T>C mutations have better prognosis compared to LHON caused by m.11778G>A and m.3460G>A mutations. Vision recovery prognosis is worse in patients who had significant decrease of visual acuity at the disease onset. OCT findings reveal preservation of visual functions in all mutations.
Bibliografia:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ISSN:0042-465X
DOI:10.17116/oftalma202313906177