Common and rare variants in patients with early onset drusen maculopathy
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14212
Abstract: Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes of EODM are not well studied. We performed whole genome sequencing in… read more here.
Keywords: rare variants; common rare; early onset; drusen maculopathy ... See more keywords
Clear subretinal fluid in a case of non-neovascular early-onset drusen: Swept-source imaging evaluation.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of ophthalmology"
DOI: 10.1177/1120672120957590
Abstract: A 50-year-old male presented with recent metamorphopsia in the right eye. Fundus examination revealed bilateral multiple cuticular drusen along with few large colloid drusen (phenotype 3 cuticular drusen). No vitelliform material was evident in the… read more here.
Keywords: onset drusen; early onset; swept source; clear subretinal ... See more keywords