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Article

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.

European journal of ophthalmology - 1 Sept 2024

Roomets Eva, Mauring Laura

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is an inherited progressive optic neuropathy usually caused by mitochondrial DNA mutations. Recently, autosomal recessive (arLHON), which is caused by biallelic mutations in the DNAJC30 gene (usually c.152A > G), has been described. The onset of LHON before the age of 12 is uncommon and it is typically associated with a more variable clinical course and a more...

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Share to Choroideremia
Share to DNA, Mitochondrial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HSP40 Heat-Shock Proteins

Share to Optic Atrophy, Hereditary, Leber

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Source

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Identifiers

PMID: 38715355
DOI: 10.1177/11206721241254408
PMCID: PMC11402268

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