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Rhegmatogenous retinal detachment, autosomal dominant(DRRD)

MedGen UID:
322821
Concept ID:
C1836081
Disease or Syndrome
Synonym: DRRD
SNOMED CT: Autosomal dominant rhegmatogenous retinal detachment (773727009)
 
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]

Recent clinical studies

Etiology

Begaj T, Marmalidou A, Papakostas TD, Diaz JD, Kim LA, Wu DM, Miller JB
PLoS One 2020;15(9):e0239138. Epub 2020 Sep 24 doi: 10.1371/journal.pone.0239138. PMID: 32970724Free PMC Article
Okonkwo ON, Hassan AO, Oderinlo O
Niger J Clin Pract 2020 Mar;23(3):337-342. doi: 10.4103/njcp.njcp_158_19. PMID: 32134032
Shibuya M, Yoshikawa Y, Katsumoto T, Shoji T, Kondo H, Miyakoshi H, Shinoda K
Sci Rep 2019 Dec 27;9(1):19948. doi: 10.1038/s41598-019-56307-z. PMID: 31882665Free PMC Article
Papavasileiou E
Hell J Nucl Med 2019 Sep-Dec;22 Suppl 2:63-70. PMID: 31802047
Shin KS, Park HJ, Jo YJ, Kim JY
PLoS One 2019;14(3):e0213457. Epub 2019 Mar 8 doi: 10.1371/journal.pone.0213457. PMID: 30849095Free PMC Article

Diagnosis

Begaj T, Marmalidou A, Papakostas TD, Diaz JD, Kim LA, Wu DM, Miller JB
PLoS One 2020;15(9):e0239138. Epub 2020 Sep 24 doi: 10.1371/journal.pone.0239138. PMID: 32970724Free PMC Article
Okonkwo ON, Hassan AO, Oderinlo O
Niger J Clin Pract 2020 Mar;23(3):337-342. doi: 10.4103/njcp.njcp_158_19. PMID: 32134032
Shin KS, Park HJ, Jo YJ, Kim JY
PLoS One 2019;14(3):e0213457. Epub 2019 Mar 8 doi: 10.1371/journal.pone.0213457. PMID: 30849095Free PMC Article
Yonemoto Y, Morishita S, Fukumoto M, Mimura M, Sato T, Kida T, Kojima S, Oku H, Sugasawa J, Ikeda T
Medicine (Baltimore) 2018 Jun;97(22):e10896. doi: 10.1097/MD.0000000000010896. PMID: 29851814Free PMC Article
Ding N, Luo S, Yu J, Zhou Y, Wu Z
Mol Vis 2018;24:252-260. Epub 2018 Mar 26 PMID: 29618920Free PMC Article

Therapy

Okonkwo ON, Hassan AO, Oderinlo O
Niger J Clin Pract 2020 Mar;23(3):337-342. doi: 10.4103/njcp.njcp_158_19. PMID: 32134032
Shin KS, Park HJ, Jo YJ, Kim JY
PLoS One 2019;14(3):e0213457. Epub 2019 Mar 8 doi: 10.1371/journal.pone.0213457. PMID: 30849095Free PMC Article
Zhou C, Lin Q, Wang Y, Qiu Q
J Int Med Res 2018 Jan;46(1):316-325. Epub 2017 Aug 25 doi: 10.1177/0300060517724931. PMID: 28840752Free PMC Article
Campos-Pavón J, Sambricio J, Redondo-García I
Arch Soc Esp Oftalmol 2016 Sep;91(9):450-2. Epub 2016 Apr 20 doi: 10.1016/j.oftal.2016.02.001. PMID: 27005921
Chen SN, Hwang JF, Wu WC
PLoS One 2016;11(2):e0149176. Epub 2016 Feb 24 doi: 10.1371/journal.pone.0149176. PMID: 26909812Free PMC Article

Prognosis

Begaj T, Marmalidou A, Papakostas TD, Diaz JD, Kim LA, Wu DM, Miller JB
PLoS One 2020;15(9):e0239138. Epub 2020 Sep 24 doi: 10.1371/journal.pone.0239138. PMID: 32970724Free PMC Article
Chai F, Zeng L, Li C, Zhao X
Biosci Rep 2019 Jun 28;39(6) Epub 2019 Jun 25 doi: 10.1042/BSR20181454. PMID: 31160485Free PMC Article
Hirata N, Iwase T, Kobayashi M, Yamamoto K, Ra E, Terasaki H
Sci Rep 2019 Mar 1;9(1):3217. doi: 10.1038/s41598-019-39839-2. PMID: 30824755Free PMC Article
Daruich A, Le Rouzic Q, Jonet L, Naud MC, Kowalczuk L, Pournaras JA, Boatright JH, Thomas A, Turck N, Moulin A, Behar-Cohen F, Picard E
Sci Adv 2019 Jan;5(1):eaau9940. Epub 2019 Jan 9 doi: 10.1126/sciadv.aau9940. PMID: 30662950Free PMC Article
Cho KH, Park IW, Kwon SI
Am J Ophthalmol 2014 Aug;158(2):251-256.e2. Epub 2014 Apr 30 doi: 10.1016/j.ajo.2014.04.023. PMID: 24794090

Clinical prediction guides

Yokota H, Nagaoka T, Noma H, Ofusa A, Kanemaki T, Aso H, Hanazaki H, Yamagami S, Shimura M
Sci Rep 2021 Jul 28;11(1):15393. doi: 10.1038/s41598-021-94993-w. PMID: 34321574Free PMC Article
Hirata N, Iwase T, Kobayashi M, Yamamoto K, Ra E, Terasaki H
Sci Rep 2019 Mar 1;9(1):3217. doi: 10.1038/s41598-019-39839-2. PMID: 30824755Free PMC Article
Daruich A, Le Rouzic Q, Jonet L, Naud MC, Kowalczuk L, Pournaras JA, Boatright JH, Thomas A, Turck N, Moulin A, Behar-Cohen F, Picard E
Sci Adv 2019 Jan;5(1):eaau9940. Epub 2019 Jan 9 doi: 10.1126/sciadv.aau9940. PMID: 30662950Free PMC Article
Haines NR, Manoharan N, Olson JL, D'Alessandro A, Reisz JA
J Proteome Res 2018 Jul 6;17(7):2421-2427. Epub 2018 Jun 19 doi: 10.1021/acs.jproteome.8b00169. PMID: 29877085
Zhou C, Lin Q, Wang Y, Qiu Q
J Int Med Res 2018 Jan;46(1):316-325. Epub 2017 Aug 25 doi: 10.1177/0300060517724931. PMID: 28840752Free PMC Article

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