Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2

BACKGROUND: Bietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the CYP4V2 gene were identified as the cause of BCD. Here, we describe the report of a homozygous point mutat...

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Publicado en:Br J Ophthalmol
Autores principales: Lockhart, Catherine M, Smith, Travis B, Yang, Paul, Naidu, Malini, Rettie, Allan E, Nath, Abhinav, Weleber, Richard, Kelly, Edward J
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6208130/
https://ncbi.nlm.nih.gov/pubmed/28698241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2016-309696
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