Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac187
Abstract: Abstract EFEMP1 R345W is a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare blinding disease with clinical pathology similar to age-related macular degeneration (AMD). Aged Efemp1 R345W/R345W knock-in mice (Efemp1ki/ki) develop microscopic… read more here.
Keywords: honeycomb retinal; complement; age; doyne honeycomb ... See more keywords
Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-237635
Abstract: A 44-year-old woman presented with decreased vision in both eyes. The retina in both eyes had drusen distributed along vascular arcades, central macula and in peripapillary region. Macula had pigmented scarring and exudation. Fundus autofluorescence… read more here.
Keywords: honeycomb retinal; dystrophy; doyne honeycomb; neovascular membrane ... See more keywords