Condition: DOYNE HONEYCOMB RETINAL DYSTROPHY
rs121434491 in
EFEMP1;LOC112268416 gene and
DOYNE HONEYCOMB RETINAL DYSTROPHY
PMID 17666404 2007 The inherited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be caused by an R345W mutation in the EFEMP1 gene (also called fibulin-3).
PMID 11384588 2001 Dominant radial drusen and Arg345Trp EFEMP1 mutation.
PMID 12242346 2002 Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
PMID 10369267 1999 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.