X-linked cone-rod dystrophy, type 1 is a rare progressive genetic disorder of the vision which is characterized by progressive myopia, photophobia, abnormal color perception, lowered photopic electroretinigraphic response, and macular retinal pigment epithelium granularity. The severity of the symptoms is variable. Peripheral vision is unaffected in most of the cases.[2] It is one of the three types of X-linked cone-rod dystrophy.[3]
| X-linked cone-rod dystrophy, type 1 | |
|---|---|
| Other names | CORDX1, CORD1, Cone-rod dystrophy X-linked 1.[1] |
 | |
| Specialty | Medical genetics, optometry, ophthalmology |
| Usual onset | Early infancy |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Medium |
| Frequency | rare |
| Deaths | - |
This condition is linked to mutations (c.2383G > T, p.E795X) in the RPGR gene, located in the Xp11.4 region of the X chromosome, and it is inherited in an X-linked dominant manner with full penetrance, because of this, it mostly affects males.[4][3][5][6]
Prevalence is unknown, although usual cone-rod dystrophy has a prevalence of around 1-9 out of 40,000-100,000 live births.[7][8]
References
edit- ^ "Cone-rod dystrophy X-linked 1". Genetic and Rare Diseases (GARD). National Institutes of Health, U.S. Department of Health & Human Services.
- ^ "Entry - #304020 - CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1". Online Mendelian Inheritance in Man (OMIM). Retrieved 2022-07-18.
- ^ a b "Cone-Rod Dystrophies, X-Linked". Hereditary Ocular Diseases. University of Arizona. Retrieved 2022-07-18.
- ^ Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, et al. (April 2002). "X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15". American Journal of Human Genetics. 70 (4): 1049–1053. doi:10.1086/339620. PMC 379101. PMID 11857109.
- ^ Wang Y, Liu S, Zhai Y, Liu Y, Wan X, Wang W, et al. (November 2021). "Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family". BMC Ophthalmology. 21 (1): 401. doi:10.1186/s12886-021-02166-0. PMC 8605601. PMID 34800980.
- ^ Seymour AB, Dash-Modi A, O'Connell JR, Shaffer-Gordon M, Mah TS, Stefko ST, et al. (January 1998). "Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3". American Journal of Human Genetics. 62 (1): 122–129. doi:10.1086/301667. PMC 1376794. PMID 9443860.
- ^ "Orphanet: Cone rod dystrophy". www.orpha.net. Retrieved 2022-07-18.
- ^ "Cone-rod dystrophy". MedlinePlus Genetics. National Library of Medicine, National Institutes of Health, U.S. Department of Health & Human Services. Retrieved 2022-07-18.