First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

BACKGROUND: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in early to...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Sheyanth, Inger Norlyk, Lolas, Ihab Bishara, Okkels, Henrik, Kiruparajan, Ligor Pradeep, Abildgaard, Søren Kromann, Petersen, Michael Bjørn
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2021
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123724/
https://ncbi.nlm.nih.gov/pubmed/33689237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1652
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