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Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report

BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. CASE PRESENTATION: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of o...

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Detalles Bibliográficos
Autores principales: Bazvand, Fatemeh, Asadi Khameneh, Esmaeil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628052/
https://www.ncbi.nlm.nih.gov/pubmed/36320086
http://dx.doi.org/10.1186/s13256-022-03581-7