Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review

Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndro...

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Detalles Bibliográficos
Autores principales: Othman, Bayan Al, Ong, Jia Ern, Dumitrescu, Alina V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223020/
https://www.ncbi.nlm.nih.gov/pubmed/35741767
http://dx.doi.org/10.3390/genes13061005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223020/
https://www.ncbi.nlm.nih.gov/pubmed/35741767
http://dx.doi.org/10.3390/genes13061005

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