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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.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone-rod dystrophy 21

Professional guidelines

PubMed

Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
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
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
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
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
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

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
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: 37806543Free PMC Article
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
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
CNGB1-related rod-cone dystrophy: A mutation review and update.
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
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
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
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515

Diagnosis

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
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: 37806543Free PMC Article
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
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
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M
Genes (Basel) 2023 May 19;14(5) doi: 10.3390/genes14051113. PMID: 37239474Free PMC Article
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Causes and consequences of inherited cone disorders.
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

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
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
Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy.
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
Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy.
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
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.
Meire FM, Van Genderen MM, Lemmens K, Ens-Dokkum MH
Ophthalmic Genet 2000 Dec;21(4):243-50. PMID: 11135496

Prognosis

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
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: 37806543Free PMC Article
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
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
Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.
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
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
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
CRX-linked macular dystrophy with intrafamilial variable expressivity.
Romdhane K, Vaclavik V, Schorderet DF, Munier FL, Viet Tran H
Ophthalmic Genet 2018 Oct;39(5):637-641. Epub 2018 Aug 1 doi: 10.1080/13816810.2018.1502789. PMID: 30067412

Clinical prediction guides

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
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: 37806543Free PMC Article
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
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
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
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
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
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
Defining renal phenotype in Alström syndrome.
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515

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