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Drusen, Radial, Autosomal Dominant

MedGen UID:
343704
Concept ID:
C1852021
Disease or Syndrome
Synonym: DRUSEN, RADIAL, AUTOSOMAL DOMINANT
 
OMIM®: 126600

Recent clinical studies

Etiology

Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF
Retina 2015 Jan;35(1):48-57. doi: 10.1097/IAE.0000000000000263. PMID: 25077532Free PMC Article

Diagnosis

Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S
Klin Monbl Augenheilkd 2012 Apr;229(4):399-402. Epub 2012 Apr 11 doi: 10.1055/s-0031-1299404. PMID: 22496012

Clinical prediction guides

Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R
Proc Natl Acad Sci U S A 2017 Sep 26;114(39):E8214-E8223. Epub 2017 Sep 6 doi: 10.1073/pnas.1710430114. PMID: 28878022Free PMC Article
Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S
Klin Monbl Augenheilkd 2012 Apr;229(4):399-402. Epub 2012 Apr 11 doi: 10.1055/s-0031-1299404. PMID: 22496012
Edwards AO, Klein ML, Berselli CB, Hejtmancik JF, Rust K, Wirtz MK, Weleber RG, Acott TS
Am J Ophthalmol 1998 Sep;126(3):417-24. doi: 10.1016/s0002-9394(98)00097-x. PMID: 9744375
Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM
Arch Ophthalmol 1996 Feb;114(2):193-8. doi: 10.1001/archopht.1996.01100130187014. PMID: 8573024

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