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Doyne honeycomb retinal dystrophy MeSH Supplementary Concept Data 2024


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
Malattia Leventinese
Registry Number
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
2010/08/25
Revision Date
2016/09/29
Doyne honeycomb retinal dystrophy Preferred
Malattia Leventinese Related
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