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Autosomal dominant rhegmatogenous retinal detachment(DRRD)

MedGen UID:
322821
Concept ID:
C1836081
Disease or Syndrome
Synonyms: DRRD; Rhegmatogenous Retinal Detachment, Autosomal Dominant
SNOMED CT: Autosomal dominant rhegmatogenous retinal detachment (773727009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0016202
OMIM®: 120140; 609508
Orphanet: ORPHA209867

Definition

A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene. [from SNOMEDCT_US]

Professional guidelines

PubMed

Falvo MJ, Sotolongo AM, Osterholzer JJ, Robertson MW, Kazerooni EA, Amorosa JK, Garshick E, Jones KD, Galvin JR, Kreiss K, Hines SE, Franks TJ, Miller RF, Rose CS, Arjomandi M, Krefft SD, Morris MJ, Polosukhin VV, Blanc PD, D'Armiento JM
Chest 2023 Mar;163(3):599-609. Epub 2022 Nov 4 doi: 10.1016/j.chest.2022.10.031. PMID: 36343686Free PMC Article
Hsin S, Stappler T, Potic J, Wolfensberger TJ, Konstantinidis L
Klin Monbl Augenheilkd 2022 Apr;239(4):490-493. Epub 2022 Apr 26 doi: 10.1055/a-1766-6381. PMID: 35472792
Michalska-Małecka K, Sierocka-Stępień J, Michalik-Jakubek A, Witek K, Nowomiejska K, Jünemann A, Rejdak R
Medicine (Baltimore) 2018 Jun;97(22):e10902. doi: 10.1097/MD.0000000000010902. PMID: 29851816Free PMC Article

Recent clinical studies

Etiology

Theelen T, Go SL, Tilanus MA, Klevering BJ, Deutman AF, Cremers FP, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2004 Oct;242(10):892-7. Epub 2004 Apr 2 doi: 10.1007/s00417-004-0903-1. PMID: 15064954

Diagnosis

Theelen T, Go SL, Tilanus MA, Klevering BJ, Deutman AF, Cremers FP, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2004 Oct;242(10):892-7. Epub 2004 Apr 2 doi: 10.1007/s00417-004-0903-1. PMID: 15064954

Clinical prediction guides

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB
Invest Ophthalmol Vis Sci 2003 Sep;44(9):4035-43. doi: 10.1167/iovs.02-0736. PMID: 12939326

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