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Cone-rod dystrophy 20(CORD20)

MedGen UID:
863293
Concept ID:
C4014856
Disease or Syndrome
Synonym: CORD20
 
Gene (location): POC1B (12q21.33)
 
Monarch Initiative: MONDO:0014427
OMIM®: 615973

Definition

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Blue color blindness
MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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).
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
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.\n\nThe 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\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

Shoemaker A
Diabetes Obes Metab 2024 Apr;26 Suppl 2:25-33. Epub 2024 Feb 21 doi: 10.1111/dom.15494. PMID: 38383825
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
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193

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
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
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
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB
Mol Vis 2009 Dec 20;15:2841-7. PMID: 20029649Free PMC Article

Diagnosis

Shoemaker A
Diabetes Obes Metab 2024 Apr;26 Suppl 2:25-33. Epub 2024 Feb 21 doi: 10.1111/dom.15494. PMID: 38383825
Kwan JT, Ramsey DJ
Ophthalmic Genet 2023 Feb;44(1):93-102. Epub 2022 Jun 29 doi: 10.1080/13816810.2022.2092755. PMID: 35769018
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Szmigielska A, Krzemień G, Roszkowska-Blaim M, Obersztyn E
Dev Period Med 2016 Apr-Jun;20(2):105-9. PMID: 27442694
Ahoor MH, Amizadeh Y, Sorkhabi R
Middle East Afr J Ophthalmol 2015 Oct-Dec;22(4):522-4. doi: 10.4103/0974-9233.167819. PMID: 26692730Free PMC Article

Therapy

Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article
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
Tsui E, Tauber J, Barbazetto I, Gelman SK
Retin Cases Brief Rep 2020 Summer;14(3):247-250. doi: 10.1097/ICB.0000000000000686. PMID: 29210962

Prognosis

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
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
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P
Ophthalmol Retina 2020 Jul;4(7):737-749. Epub 2020 Feb 27 doi: 10.1016/j.oret.2020.02.009. PMID: 32646556
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB
Mol Vis 2009 Dec 20;15:2841-7. PMID: 20029649Free PMC Article

Clinical prediction guides

Zhang Q, Sun J, Liu Z, Wang H, Zhou H, Liu W, Jia H, Li N, Li T, Wang F, Sun X
Am J Ophthalmol 2024 Oct;266:235-247. Epub 2024 Jun 15 doi: 10.1016/j.ajo.2024.06.013. PMID: 38880373
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
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
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
Jiang L, Wheaton D, Bereta G, Zhang K, Palczewski K, Birch DG, Baehr W
Vision Res 2008 Oct;48(23-24):2425-32. Epub 2008 Sep 16 doi: 10.1016/j.visres.2008.07.016. PMID: 18706439Free PMC Article

Recent systematic reviews

Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
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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