ArticleEuropean journal of ophthalmology2024
Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.
Article in European journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- DNAJC30 Mutation in a Patient with Coexisting Leber's Hereditary Optic Neuropathy and Multiple Sclerosis (Harding's Syndrome): A Case Report.Case reports in ophthalmologyArticle
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2 authors.
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Abstract
backgroundLeber 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 MATERIALS AND
methodsDetailed clinical findings of a female child with vision loss due to arLHON together with choroideremia (CHM) carrier state are presented.
resultsGenetic testing for the three most common mitochondrial LHON pathogenic variants was negative. On suspicion of arLHON, genetic testing was continued with the next-generation sequencing (NGS) of the nuclear DNA, identifying a homozygous pathogenic variant in
conclusionsIn children with acute or subacute, simultaneous, or sequential vision loss that is unresponsive to immunomodulatory treatment, LHON should be considered as a possible diagnosis. Our case emphasizes the diagnostic advantage of sequencing
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