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Congenital stationary cone dysfunction

MedGen UID:
850784
Concept ID:
C0543968
Disease or Syndrome
Synonym: Cone dysfunction
 
HPO: HP:0030637

Definition

Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital stationary cone dysfunction

Professional guidelines

PubMed

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322

Recent clinical studies

Etiology

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Raghuram A, Hansen RM, Moskowitz A, Fulton AB
Invest Ophthalmol Vis Sci 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. PMID: 23761088Free PMC Article
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322

Diagnosis

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Whatham AR, Nguyen V, Zhu Y, Hennessy M, Kalloniatis M
Clin Exp Optom 2014 Mar;97(2):99-115. Epub 2013 Jul 19 doi: 10.1111/cxo.12085. PMID: 23865913
Raghuram A, Hansen RM, Moskowitz A, Fulton AB
Invest Ophthalmol Vis Sci 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. PMID: 23761088Free PMC Article
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322
De Laey JJ
Bull Soc Belge Ophtalmol 1991;241:41-50. PMID: 1840995

Therapy

Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T
Doc Ophthalmol 2020 Jun;140(3):279-287. Epub 2020 Jan 3 doi: 10.1007/s10633-019-09743-1. PMID: 31900741
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group
Retina 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. PMID: 28145975Free PMC Article
Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MO
Invest Ophthalmol Vis Sci 1992 Mar;33(3):477-83. PMID: 1544774

Prognosis

Bianco L, Antropoli A, Benadji A, Condroyer C, Antonio A, Navarro J, Sahel JA, Zeitz C, Audo I
Am J Ophthalmol 2024 Nov;267:160-171. Epub 2024 Jun 28 doi: 10.1016/j.ajo.2024.06.016. PMID: 38945349
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425

Clinical prediction guides

Peshenko IV, Olshevskaya EV, Dizhoor AM
J Biol Chem 2020 Dec 25;295(52):18301-18315. Epub 2020 Oct 27 doi: 10.1074/jbc.RA120.015553. PMID: 33109612Free PMC Article
Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
Doc Ophthalmol 2020 Apr;140(2):147-157. Epub 2019 Oct 3 doi: 10.1007/s10633-019-09727-1. PMID: 31583501
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV
Ophthalmology 2015 Jan;122(1):192-9. Epub 2014 Sep 10 doi: 10.1016/j.ophtha.2014.07.037. PMID: 25217415Free PMC Article
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764
Glass IA, Good P, Coleman MP, Fullwood P, Giles MG, Lindsay S, Nemeth AH, Davies KE, Willshaw HA, Fielder A
J Med Genet 1993 Dec;30(12):1044-50. doi: 10.1136/jmg.30.12.1044. PMID: 7907666Free PMC Article

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