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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
Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group
Ophthalmic Res 2021;64(5):740-753. Epub 2021 Mar 8 doi: 10.1159/000515688. PMID: 33684911
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

Recent clinical studies

Etiology

Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M
Ophthalmol Retina 2023 Oct;7(10):918-931. Epub 2023 Jun 17 doi: 10.1016/j.oret.2023.06.007. PMID: 37331655
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I
Hum Mutat 2021 Jun;42(6):641-666. Epub 2021 May 16 doi: 10.1002/humu.24205. PMID: 33847019Free 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
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
Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T
Acta Ophthalmol Scand 2001 Aug;79(4):359-65. doi: 10.1034/j.1600-0420.2001.079004359.x. PMID: 11453854

Diagnosis

Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M
Ophthalmol Retina 2023 Oct;7(10):918-931. Epub 2023 Jun 17 doi: 10.1016/j.oret.2023.06.007. PMID: 37331655
Park JC, Collison FT, Fishman GA, McAnany JJ
Transl Vis Sci Technol 2020 Aug;9(9):26. Epub 2020 Aug 17 doi: 10.1167/tvst.9.9.26. PMID: 32879782Free PMC Article
Durlu YK, Köroğlu Ç, Tolun A
JAMA Ophthalmol 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658. PMID: 24945461
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
Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T
Acta Ophthalmol Scand 2001 Aug;79(4):359-65. doi: 10.1034/j.1600-0420.2001.079004359.x. PMID: 11453854

Therapy

Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG
Ophthalmic Genet 2023 Oct;44(5):486-490. Epub 2022 Nov 24 doi: 10.1080/13816810.2022.2141792. PMID: 36420660Free PMC Article
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
Charng J, Lamey TM, Thompson JA, McLaren TL, Attia MS, McAllister IL, Constable IJ, Mackey DA, De Roach JN, Chen FK
Transl Vis Sci Technol 2020 Sep;9(10):9. Epub 2020 Sep 9 doi: 10.1167/tvst.9.10.9. PMID: 32974081Free PMC Article
Nishiguchi KM, Fujita K, Tokashiki N, Komamura H, Takemoto-Kimura S, Okuno H, Bito H, Nakazawa T
Mol Ther 2018 Oct 3;26(10):2397-2406. Epub 2018 Jul 17 doi: 10.1016/j.ymthe.2018.07.012. PMID: 30064895Free PMC Article
Siqueira RC, Messias A, Voltarelli JC, Scott IU, Jorge R
Retina 2011 Jun;31(6):1207-14. doi: 10.1097/IAE.0b013e3181f9c242. PMID: 21293313

Prognosis

Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543
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
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
Durlu YK, Köroğlu Ç, Tolun A
JAMA Ophthalmol 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658. PMID: 24945461
Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T
Acta Ophthalmol Scand 2001 Aug;79(4):359-65. doi: 10.1034/j.1600-0420.2001.079004359.x. PMID: 11453854

Clinical prediction guides

Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543
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
Roshandel D, Heath Jeffery RC, Charng J, Sampson DM, McLenachan S, Mackey DA, Chen FK
Transl Vis Sci Technol 2021 Dec 1;10(14):11. doi: 10.1167/tvst.10.14.11. PMID: 34904999Free 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
Durlu YK, Köroğlu Ç, Tolun A
JAMA Ophthalmol 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658. PMID: 24945461

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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