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Retinal dystrophy with early macular involvement(CORD21)

MedGen UID:
891534
Concept ID:
C4049066
Disease or Syndrome
Synonym: Cone-rod dystrophy 21
 
Gene (location): DRAM2 (1p13.3)
 
HPO: HP:0030635
Monarch Initiative: MONDO:0014669
OMIM®: 616502

Definition

Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene. [from MONDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal dystrophy with early macular involvement

Professional guidelines

PubMed

Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165

Recent clinical studies

Etiology

de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
Khan AO, Al Teneiji AM
Ophthalmic Genet 2019 Jun;40(3):247-251. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627467. PMID: 31264916
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE
JAMA Netw Open 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. PMID: 31199449Free PMC Article
Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R
J Med Genet 2017 Jun;54(6):404-412. Epub 2017 Apr 26 doi: 10.1136/jmedgenet-2017-104540. PMID: 28446513Free PMC Article
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ
Ophthalmology 2015 Jan;122(1):180-91. Epub 2014 Sep 26 doi: 10.1016/j.ophtha.2014.07.053. PMID: 25267528

Diagnosis

Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Huang L, Sun L, Wang Z, Chen C, Wang P, Sun W, Luo X, Ding X
Mol Genet Genomic Med 2020 Oct;8(10):e1421. Epub 2020 Jul 21 doi: 10.1002/mgg3.1421. PMID: 33460243Free PMC Article
Zernant J, Lee W, Collison FT, Fishman GA, Sergeev YV, Schuerch K, Sparrow JR, Tsang SH, Allikmets R
J Med Genet 2017 Jun;54(6):404-412. Epub 2017 Apr 26 doi: 10.1136/jmedgenet-2017-104540. PMID: 28446513Free PMC Article
Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T
Ophthalmic Genet 2016;37(1):68-75. Epub 2014 Aug 12 doi: 10.3109/13816810.2014.949380. PMID: 25113443
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ
Ophthalmology 2015 Jan;122(1):180-91. Epub 2014 Sep 26 doi: 10.1016/j.ophtha.2014.07.053. PMID: 25267528

Therapy

Yeo JH, Min CH, Yoon YH
Retina 2022 Sep 1;42(9):1796-1804. Epub 2022 May 13 doi: 10.1097/IAE.0000000000003531. PMID: 35617678Free PMC Article
Sung Y, Lee MJ, Choi J, Jung SY, Chong SY, Sung JH, Shim SH, Song WK
Br J Ophthalmol 2021 Jun;105(6):829-837. Epub 2020 Jul 29 doi: 10.1136/bjophthalmol-2020-316225. PMID: 32727729
Downes SM, Nguyen T, Tai V, Broadgate S, Shah M, Al-Khuzaei S, MacLaren RE, Shanks M, Clouston P, Halford S
Genes (Basel) 2020 Dec 12;11(12) doi: 10.3390/genes11121497. PMID: 33322828Free PMC Article
Rao RC, Dedania VS, Johnson MW
Am J Ophthalmol 2017 Jul;179:32-38. Epub 2017 Apr 17 doi: 10.1016/j.ajo.2017.04.007. PMID: 28428049
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165

Prognosis

de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC
Genes (Basel) 2021 Aug 19;12(8) doi: 10.3390/genes12081261. PMID: 34440435Free PMC Article
Khan AO, Al Teneiji AM
Ophthalmic Genet 2019 Jun;40(3):247-251. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627467. PMID: 31264916
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ
Ophthalmology 2015 Jan;122(1):180-91. Epub 2014 Sep 26 doi: 10.1016/j.ophtha.2014.07.053. PMID: 25267528

Clinical prediction guides

de Breuk A, Lechanteur YTE, Astuti G, Galbany JC, Klaver CCW, Hoyng CB, den Hollander AI
Clin Genet 2022 Nov;102(5):414-423. Epub 2022 Sep 13 doi: 10.1111/cge.14212. PMID: 36053979Free PMC Article
Talib M, Van Cauwenbergh C, De Zaeytijd J, Van Wynsberghe D, De Baere E, Boon CJF, Leroy BP
Br J Ophthalmol 2022 May;106(5):696-704. Epub 2021 Feb 12 doi: 10.1136/bjophthalmol-2020-316781. PMID: 33579689
Khan AO, Al Teneiji AM
Ophthalmic Genet 2019 Jun;40(3):247-251. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627467. PMID: 31264916
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE
JAMA Netw Open 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. PMID: 31199449Free PMC Article
van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ
Invest Ophthalmol Vis Sci 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. PMID: 24876279

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