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Cone dystrophy 1, X-linked(COD1)

MedGen UID:
336778
•Concept ID:
C1844777
•
Disease or Syndrome
Synonym: COD1
 
Monarch Initiative: MONDO:0800320
OMIM®: 304020; 312610

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 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: 24454928Free 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: 1415215Free PMC Article

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: 38254053Free PMC Article
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:53-60. doi: 10.1007/978-3-319-95046-4_12. PMID: 30578485
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
Congenital adrenal hypoplasia--an X-linked disease.
Weiss L, Mellinger RC
J Med Genet 1970 Mar;7(1):27-32. doi: 10.1136/jmg.7.1.27. PMID: 5312341Free PMC Article

Diagnosis

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
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: 35260635Free PMC Article
Gene therapy for inherited retinal and optic nerve degenerations.
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
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
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

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: 38254053Free PMC Article
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL
Transl Vis Sci Technol 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. PMID: 36692456Free 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
Gene therapy for inherited retinal and optic nerve degenerations.
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
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: 25324231Free PMC Article

Prognosis

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
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
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: 32874040Free PMC Article
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
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

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
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free 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: 35743313Free 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: 35704304Free PMC Article
Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.
Patterson EJ, Kalitzeos A, Kasilian M, Gardner JC, Neitz J, Hardcastle AJ, Neitz M, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2018 Aug 1;59(10):4238-4248. doi: 10.1167/iovs.18-24699. PMID: 30128495Free PMC Article

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