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Cone-rod dystrophy 23(CORD23)

MedGen UID:
1840623
•Concept ID:
C5829987
•
Disease or Syndrome
Synonym: CORD23
 
OMIM®: 613425; 613428

Professional guidelines

PubMed

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L, Arrigo A, Antropoli A, Manitto MP, Martina E, Aragona E, Bandello F, Battaglia Parodi M
JAMA Ophthalmol 2023 Sep 1;141(9):826-833. doi: 10.1001/jamaophthalmol.2023.3188. PMID: 37498587Free PMC Article
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
Manitto MP, Roosing S, Boon CJ, Souied EH, Bandello F, Querques G
Eur J Hum Genet 2015 Dec;23(12):1749-. Epub 2015 Apr 15 doi: 10.1038/ejhg.2015.67. PMID: 25873014Free PMC Article

Recent clinical studies

Etiology

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
Zhang Q, Sun J, Liu Z, Wang H, Zhou H, Liu W, Jia H, Li N, Li T, Wang F, Sun X
Am J Ophthalmol 2024 Oct;266:235-247. Epub 2024 Jun 15 doi: 10.1016/j.ajo.2024.06.013. PMID: 38880373
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR
Hum Mol Genet 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. PMID: 11726554

Diagnosis

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
Zhang Q, Sun J, Liu Z, Wang H, Zhou H, Liu W, Jia H, Li N, Li T, Wang F, Sun X
Am J Ophthalmol 2024 Oct;266:235-247. Epub 2024 Jun 15 doi: 10.1016/j.ajo.2024.06.013. PMID: 38880373
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
Manitto MP, Roosing S, Boon CJ, Souied EH, Bandello F, Querques G
Eur J Hum Genet 2015 Dec;23(12):1749-. Epub 2015 Apr 15 doi: 10.1038/ejhg.2015.67. PMID: 25873014Free PMC Article
Stargardt's disease and the ABCR gene.
Westerfeld C, Mukai S
Semin Ophthalmol 2008 Jan-Feb;23(1):59-65. doi: 10.1080/08820530701745249. PMID: 18214793
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.
Yusuf IH, Burgoyne T, Salman A, McClements ME, MacLaren RE, Charbel Issa P
Mol Ther 2024 May 1;32(5):1445-1460. Epub 2024 Mar 19 doi: 10.1016/j.ymthe.2024.03.026. PMID: 38504520Free PMC Article
Presumed Unindicated Implantation of Posterior Chamber Phakic Intraocular Lens.
Almubaiyd AM, Bin Helayel H, Al-Swailem SA
Am J Case Rep 2023 Jun 30;24:e939940. doi: 10.12659/AJCR.939940. PMID: 37386760Free PMC Article
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
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
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Prognosis

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
Krašovec T, Volk M, Šuštar Habjan M, Hawlina M, Vidović Valentinčič N, Fakin A
Int J Mol Sci 2022 Jul 2;23(13) doi: 10.3390/ijms23137398. PMID: 35806404Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR
Hum Mol Genet 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. PMID: 11726554

Clinical prediction guides

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
Zhang Q, Sun J, Liu Z, Wang H, Zhou H, Liu W, Jia H, Li N, Li T, Wang F, Sun X
Am J Ophthalmol 2024 Oct;266:235-247. Epub 2024 Jun 15 doi: 10.1016/j.ajo.2024.06.013. PMID: 38880373
The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
Krašovec T, Volk M, Šuštar Habjan M, Hawlina M, Vidović Valentinčič N, Fakin A
Int J Mol Sci 2022 Jul 2;23(13) doi: 10.3390/ijms23137398. PMID: 35806404Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR
Hum Mol Genet 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. PMID: 11726554

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