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Cone-rod dystrophy 11(CORD11)

MedGen UID:
322767
Concept ID:
C1835865
Disease or Syndrome
Synonym: CORD11
 
Gene (location): RAX2 (19p13.3)
 
Monarch Initiative: MONDO:0012483
OMIM®: 610381

Definition

The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).

There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. [from MedlinePlus Genetics]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Slow decrease in visual acuity
MedGen UID:
343976
Concept ID:
C1853141
Finding
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

Professional guidelines

PubMed

Bianco L, Arrigo A, Antropoli A, Manitto MP, Martina E, Aragona E, Bandello F, Battaglia Parodi M
JAMA Ophthalmol 2023 Sep 1;141(9):826-833. doi: 10.1001/jamaophthalmol.2023.3188. PMID: 37498587Free PMC Article
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article

Recent clinical studies

Etiology

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free 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
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free 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
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Diagnosis

Kalaw FGP, Ignacio JCI, Wu CY, Ferreyra H, Nudleman E, Baxter SL, Freeman WR, Borooah S
Retina 2023 Jul 1;43(7):1174-1181. doi: 10.1097/IAE.0000000000003794. PMID: 36996461
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
Garafalo AV, Sheplock R, Sumaroka A, Roman AJ, Cideciyan AV, Jacobson SG
EBioMedicine 2021 Jan;63:103200. Epub 2021 Jan 6 doi: 10.1016/j.ebiom.2020.103200. PMID: 33421946Free PMC Article
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Therapy

Kalaw FGP, Ignacio JCI, Wu CY, Ferreyra H, Nudleman E, Baxter SL, Freeman WR, Borooah S
Retina 2023 Jul 1;43(7):1174-1181. doi: 10.1097/IAE.0000000000003794. PMID: 36996461
Lorenz B, Wegscheider E, Hamel C, Preising MN, Stieger K
Ophthalmic Res 2017;58(4):194-202. Epub 2017 Jul 12 doi: 10.1159/000477257. PMID: 28697496
Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM
Lancet 2016 Aug 13;388(10045):661-72. Epub 2016 Jun 30 doi: 10.1016/S0140-6736(16)30371-3. PMID: 27375040Free 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
Okano K, Maeda A, Chen Y, Chauhan V, Tang J, Palczewska G, Sakai T, Tsuneoka H, Palczewski K, Maeda T
J Neurochem 2012 Apr;121(1):146-56. Epub 2012 Feb 9 doi: 10.1111/j.1471-4159.2012.07647.x. PMID: 22220722Free PMC Article

Prognosis

De Zaeytijd J, Van Cauwenbergh C, De Bruyne M, Van Heetvelde M, De Baere E, Coppieters F, Leroy BP
Retina 2021 Jun 1;41(6):1346-1355. doi: 10.1097/IAE.0000000000003028. PMID: 34001834
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Clinical prediction guides

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Karam A, Trottier Y
Adv Exp Med Biol 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. PMID: 29427104

Recent systematic reviews

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843Free PMC Article
Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh S
Eur J Hum Genet 2021 Jun;29(6):897-910. Epub 2020 Nov 13 doi: 10.1038/s41431-020-00754-0. PMID: 33188265Free PMC Article

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