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LEBER HEREDITARY OPTIC NEUROPATHY: A CASE REPORT OF CONCURRENT RARE MITOCHONDRIAL MUTATIONS AND ABCA4 NUCLEAR GENE MUTATION.

Retinal cases & brief reports - 1 Sept 2025

Ashrafkhorasani Maryam, Chou Brian, Sadun Alfredo A

Abstract excerpt

PURPOSE: This case report aimed to describe the clinical presentation of a 21-year-old male patient with subacute bilateral painless vision loss, clinically consistent with Leber hereditary optic neuropathy (LHON), a mitochondrially inherited disorder and to investigate the genetic mutations associated with this condition. METHODS: Genetic testing was performed on the patient to identify potential LHON-related...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41995405
DOI: 10.1097/ICB.0000000000001618

Genes

ABCA4

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