[New possibilities in diagnosis of hereditary optic neuropathies].

doi:10.17116/oftalma2021137052361

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Article

[New possibilities in diagnosis of hereditary optic neuropathies].

Vestnik oftalmologii - 1 Jan 2021

Sheremet N L, Krylova T D, Tsygankova P G

Abstract excerpt

The study analyses data from clinical and genetic examination of 114 patients, as well as examination of cytological skin fibroblasts of 20 patients with hereditary optic neuropathy (HON). The clinical examination revealed HON symptoms in all study patients, primary damage of the retinal ganglion cells accompanied by swelling of the peripapillary retinal nerve fiber layer (RNFL) in the acute stage of the disease...

Topics

DNA, Mitochondrial
Humans
Mutation
Optic Atrophy, Hereditary, Leber
Optic Nerve
Optic Nerve Diseases
Retinal Ganglion Cells

Source

Open in PubMed

Identifiers

PMID: 34669349
DOI: 10.17116/oftalma2021137052361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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