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Cone dystrophy 5, X-linked(COD5)

MedGen UID:
854645
Concept ID:
C3887937
Disease or Syndrome
Synonyms: COD5; CONE DYSTROPHY 5, X-LINKED
 
Monarch Initiative: MONDO:0800319
OMIM®: 300821; 303700

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
Yang L, Yin X, Feng L, You D, Wu L, Chen N, Li A, Li G, Ma Z
PLoS One 2014;9(1):e85752. Epub 2014 Jan 15 doi: 10.1371/journal.pone.0085752. PMID: 24454928Free PMC Article
Deeb SS, Lindsey DT, Hibiya Y, Sanocki E, Winderickx J, Teller DY, Motulsky AG
Am J Hum Genet 1992 Oct;51(4):687-700. PMID: 1415215Free PMC Article

Recent clinical studies

Etiology

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
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
Khateb S, Shemesh A, Offenheim A, Sheffer R, Ben-Yosef T, Chowers I, Leibu R, Baumann B, Wissinger B, Kohl S, Banin E, Sharon D
Mol Vis 2022;28:21-28. Epub 2022 Feb 22 PMID: 35400991Free PMC Article
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094

Diagnosis

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
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. PMID: 35119454Free PMC Article
Holmquist D, Epstein D, Olsson M, Wissinger B, Kohl S, Hengstler J, Tear-Fahnehjelm K
Ophthalmic Genet 2021 Oct;42(5):570-576. Epub 2021 Jul 21 doi: 10.1080/13816810.2021.1938139. PMID: 34287097
Sun LW, Johnson RD, Williams V, Summerfelt P, Dubra A, Weinberg DV, Stepien KE, Fishman GA, Carroll J
PLoS One 2016;11(12):e0167526. Epub 2016 Dec 9 doi: 10.1371/journal.pone.0167526. PMID: 27936069Free PMC Article
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887

Therapy

Wood LJ, Jolly JK, Andrews CD, Wilson IR, Hickey D, Cehajic-Kapetanovic J, Maclaren RE
Clin Exp Optom 2021 Jan;104(1):90-94. doi: 10.1111/cxo.13087. PMID: 32372497
Harrington S, Davison PA, O'dwyer V
Clin Exp Optom 2021 Jan;104(1):48-55. doi: 10.1111/cxo.13072. PMID: 32285548
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG
PLoS One 2015;10(4):e0125700. Epub 2015 Apr 24 doi: 10.1371/journal.pone.0125700. PMID: 25909963Free PMC Article
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article
Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

Prognosis

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
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
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH
Ophthalmology 2006 Nov;113(11):2066.e1-10. Epub 2006 Aug 28 doi: 10.1016/j.ophtha.2006.05.045. PMID: 16935340
Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL
Hum Genet 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. PMID: 2227956

Clinical prediction guides

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
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
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
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH
Ophthalmology 2006 Nov;113(11):2066.e1-10. Epub 2006 Aug 28 doi: 10.1016/j.ophtha.2006.05.045. PMID: 16935340
Seymour AB, Dash-Modi A, O'Connell JR, Shaffer-Gordon M, Mah TS, Stefko ST, Nagaraja R, Brown J, Kimura AE, Ferrell RE, Gorin MB
Am J Hum Genet 1998 Jan;62(1):122-9. doi: 10.1086/301667. PMID: 9443860Free PMC Article

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