Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family

Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is cause...

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Detalles Bibliográficos
Autores principales: Pojda-Wilczek, Dorota, Wójcik, Justyna, Kmak, Bożena, Krawczyński, Maciej Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689444/
https://www.ncbi.nlm.nih.gov/pubmed/36359543
http://dx.doi.org/10.3390/diagnostics12112701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689444/
https://www.ncbi.nlm.nih.gov/pubmed/36359543
http://dx.doi.org/10.3390/diagnostics12112701

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