MeSH Browser

MeSH Supplementary: Doyne honeycomb retinal dystrophy
Unique ID: C535602
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535602
Entry Term(s): Doyne honeycomb degeneration of retina; Drusen, Radial, Autosomal Dominant; Malattia Leventinese
Registry Numbers: 0
Previous Indexing: *CORNEAL DYSTROPHIES, HEREDITARY (2009-2016)
Heading Mapped to: Optic Disk Drusen / congenital
Frequency: 26
Note: Small round white spots (drusen) that appear at the posterior pole of the eye, including the areas of the MACULA LUTEA and OPTIC DISK, in early adulthood and progress to form a mosaic or honeycomb pattern coincident with deterioration of vision. It is caused by mutations in the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) protein. OMIM: 126600
Date of Entry: 2024/11/05
Revision Date: 2024/11/05

Doyne honeycomb retinal dystrophy MeSH Supplementary Concept Data 2025