Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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

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: 33472769 Free PMC Article

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

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: 24454928 Free PMC Article

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies.

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: 1415215 Free PMC Article

See all (3)

Recent clinical studies

Etiology

Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.

Gudeta TB, Asrat T
BMC Pediatr 2024 Jan 22;24(1):72. doi: 10.1186/s12887-024-04529-0. PMID: 38254053 Free PMC Article

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

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: 35704304 Free PMC Article

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

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: 35119454 Free PMC Article

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.

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

Metacarpal 4-5 fusion with X-linked recessive inheritance.

Holmes LB, Wolf E, Miettinen OS
Am J Hum Genet 1972 Sep;24(5):562-8. PMID: 4538283 Free PMC Article

See all (24)

Diagnosis

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M
Sci Rep 2022 Mar 8;12(1):3774. doi: 10.1038/s41598-022-07618-1. PMID: 35260635 Free PMC Article

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.

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

X linked progressive cone dystrophy with specific attention to carrier detection.

van Everdingen JA, Went LN, Keunen JE, Oosterhuis JA
J Med Genet 1992 May;29(5):291-4. doi: 10.1136/jmg.29.5.291. PMID: 1583654 Free PMC Article

Color vision defects in retinitis pigmentosa.

Fishman GA, Young RS, Vasquez V, Lourenço P
Ann Ophthalmol 1981 May;13(5):609-18. PMID: 6973307

See all (39)

Therapy

Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.

Gudeta TB, Asrat T
BMC Pediatr 2024 Jan 22;24(1):72. doi: 10.1186/s12887-024-04529-0. PMID: 38254053 Free PMC Article

Low-contrast visual acuity versus low-luminance visual acuity in choroideremia.

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

On Random and Systematic Variation in the Prevalence of Defective Color Vision.

Stark AE
Twin Res Hum Genet 2020 Oct;23(5):278-282. Epub 2020 Oct 6 doi: 10.1017/thg.2020.74. PMID: 33019953

Clinical characteristics and current therapies for inherited retinal degenerations.

Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231 Free PMC Article

MZ female twins discordant for X-linked diseases: a review.

Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

See all (7)

Prognosis

Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.

Ueno S, Hayashi T, Tsunoda K, Aoki T, Kondo M
Jpn J Ophthalmol 2024 May;68(3):167-173. Epub 2024 Apr 3 doi: 10.1007/s10384-024-01060-8. PMID: 38568448

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: 37544434 Free PMC Article

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

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

Electronegative Electroretinograms in the United Arab Emirates.

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: 32874040 Free PMC Article

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF
Hum Mutat 2002 May;19(5):486-500. doi: 10.1002/humu.10057. PMID: 11968081

See all (17)

Clinical prediction guides

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent A
Eye (Lond) 2023 Dec;37(18):3734-3742. Epub 2023 May 24 doi: 10.1038/s41433-023-02581-1. PMID: 37225827 Free PMC Article

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B
Int J Mol Sci 2022 Jun 20;23(12) doi: 10.3390/ijms23126868. PMID: 35743313 Free PMC Article

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

On Random and Systematic Variation in the Prevalence of Defective Color Vision.

Stark AE
Twin Res Hum Genet 2020 Oct;23(5):278-282. Epub 2020 Oct 6 doi: 10.1017/thg.2020.74. PMID: 33019953

See all (21)

MedGen

National Center for Biotechnology Information

Send to:

Cone dystrophy 5, X-linked(COD5)

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity