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

Inger Norlyk SheyanthIhab Bishara LolasHenrik OkkelsLigor Pradeep KiruparajanSøren Kromann AbildgaardMichael Bjørn Petersen

Published in: Molecular genetics & genomic medicine (2021)

Molecular genetic investigation revealed heterozygosity for the known pathogenic missense variant in EFEMP1: c.1033C>T (R345W) previously reported in relation to DHRD/ML. Family history revealed no other cases of similar visual impairment suggesting a de novo mutation. Furthermore, there was no correlation between the unique DHRD/ML haplotypes reported in the literature and our patient.

Keyphrases

single cell
systematic review
optic nerve
optical coherence tomography
early onset
diabetic retinopathy
genome wide
gene expression