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Cone-rod dystrophy 10(CORD10)

MedGen UID:
337598
Concept ID:
C1846529
Disease or Syndrome
Synonym: CORD10
 
Gene (location): SEMA4A (1q22)
 
Monarch Initiative: MONDO:0012464
OMIM®: 610283

Definition

Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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).  https://medlineplus.gov/genetics/condition/cone-rod-dystrophy

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.
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.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Peripheral visual field loss
MedGen UID:
116124
Concept ID:
C0241688
Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

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
Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium
Sci Rep 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z. PMID: 32533067Free PMC Article
Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C
Hum Mutat 2012 Jan;33(1):73-80. Epub 2011 Dec 1 doi: 10.1002/humu.21640. PMID: 22052604

Recent clinical studies

Etiology

Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G
Sci Rep 2021 Sep 21;11(1):18703. doi: 10.1038/s41598-021-98150-1. PMID: 34548540Free 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
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free PMC Article

Diagnosis

Li X, Wang Y, Wang J, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):44. doi: 10.1167/iovs.64.15.44. PMID: 38153748Free PMC Article
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Kumaran N, Moore AT, Weleber RG, Michaelides M
Br J Ophthalmol 2017 Sep;101(9):1147-1154. Epub 2017 Jul 8 doi: 10.1136/bjophthalmol-2016-309975. PMID: 28689169Free PMC Article
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP
Prog Retin Eye Res 2014 Sep;42:1-26. Epub 2014 May 22 doi: 10.1016/j.preteyeres.2014.05.001. PMID: 24857951
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free PMC Article

Therapy

Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M
Ophthalmology 2021 May;128(5):706-718. Epub 2020 Oct 8 doi: 10.1016/j.ophtha.2020.10.006. PMID: 33039401Free PMC Article
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
Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS
Ophthalmic Genet 2016 Dec;37(4):445-452. Epub 2016 Mar 30 doi: 10.3109/13816810.2015.1126616. PMID: 27028354Free PMC Article
Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N
Ophthalmic Genet 2014 Jun;35(2):119-24. Epub 2013 May 2 doi: 10.3109/13816810.2013.793363. PMID: 23638917
Kong J, Kim SR, Binley K, Pata I, Doi K, Mannik J, Zernant-Rajang J, Kan O, Iqball S, Naylor S, Sparrow JR, Gouras P, Allikmets R
Gene Ther 2008 Oct;15(19):1311-20. Epub 2008 May 8 doi: 10.1038/gt.2008.78. PMID: 18463687Free PMC Article

Prognosis

Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476
Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM
Genes (Basel) 2022 May 22;13(5) doi: 10.3390/genes13050925. PMID: 35627310Free PMC Article
Shen RJ, Wang JG, Li Y, Jin ZB
Orphanet J Rare Dis 2021 Jun 15;16(1):278. doi: 10.1186/s13023-021-01902-5. PMID: 34130719Free PMC Article
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free 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

Clinical prediction guides

Li X, Wang Y, Wang J, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):44. doi: 10.1167/iovs.64.15.44. PMID: 38153748Free PMC Article
Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM
Genes (Basel) 2022 May 22;13(5) doi: 10.3390/genes13050925. PMID: 35627310Free PMC Article
Hull S, Kiray G, Chiang JP, Vincent AL
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):708-717. Epub 2020 Aug 28 doi: 10.1002/ajmg.c.31836. PMID: 32856788
Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R
Retina 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. PMID: 30134391

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

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