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Cone-rod dystrophy 21(CORD21)

MedGen UID:
891534
Concept ID:
C4049066
Disease or Syndrome
Synonym: Retinal dystrophy with early macular involvement
 
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.
Night blindness
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  
  • CROGVCone-rod dystrophy 21

Professional guidelines

PubMed

Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K
Br J Ophthalmol 2022 Jun;106(6):831-838. Epub 2021 Jan 20 doi: 10.1136/bjophthalmol-2020-318286. PMID: 33472769Free 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
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article

Recent clinical studies

Etiology

Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Barboni MTS, Dias SL, Silva LA, Damico FM, Vidal KS, Costa MF, Nagy BV, Kremers J, Ventura DF
Invest Ophthalmol Vis Sci 2021 Apr 1;62(4):29. doi: 10.1167/iovs.62.4.29. PMID: 33891680Free PMC Article
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I
Hum Mutat 2021 Jun;42(6):641-666. Epub 2021 May 16 doi: 10.1002/humu.24205. PMID: 33847019Free PMC Article
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE
Int J Mol Sci 2020 Aug 22;21(17) doi: 10.3390/ijms21176055. PMID: 32842706Free PMC Article
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088

Diagnosis

Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Barboni MTS, Dias SL, Silva LA, Damico FM, Vidal KS, Costa MF, Nagy BV, Kremers J, Ventura DF
Invest Ophthalmol Vis Sci 2021 Apr 1;62(4):29. doi: 10.1167/iovs.62.4.29. PMID: 33891680Free PMC Article
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP
Prog Retin Eye Res 2014 Sep;42:1-26. Epub 2014 May 22 doi: 10.1016/j.preteyeres.2014.05.001. PMID: 24857951

Therapy

Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article
Charng J, Lamey TM, Thompson JA, McLaren TL, Attia MS, McAllister IL, Constable IJ, Mackey DA, De Roach JN, Chen FK
Transl Vis Sci Technol 2020 Sep;9(10):9. Epub 2020 Sep 9 doi: 10.1167/tvst.9.10.9. PMID: 32974081Free PMC Article
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE
Int J Mol Sci 2020 Aug 22;21(17) doi: 10.3390/ijms21176055. PMID: 32842706Free PMC Article
Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH
Ophthalmic Genet 2000 Dec;21(4):243-50. PMID: 11135496

Prognosis

Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088
Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S
Eur J Ophthalmol 2011 Jan-Feb;21(1):30-8. doi: 10.5301/ejo.2010.5433. PMID: 20544672

Clinical prediction guides

Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543
Raming K, Gliem M, Charbel Issa P, Birtel J, Herrmann P, Holz FG, Pfau M, Hess K
Am J Ophthalmol 2022 Feb;234:274-284. Epub 2021 Aug 2 doi: 10.1016/j.ajo.2021.07.032. PMID: 34352251
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE
Int J Mol Sci 2020 Aug 22;21(17) doi: 10.3390/ijms21176055. PMID: 32842706Free PMC Article
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I
Retina 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. PMID: 31479088

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