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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Sheyanth, Inger Norlyk, Lolas, Ihab Bishara, Okkels, Henrik, Kiruparajan, Ligor Pradeep, Abildgaard, Søren Kromann, Petersen, Michael Bjørn
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2021
Aiheet:
Clinical Reports
Linkit: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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