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Cone-rod dystrophy 18(CORD18)

MedGen UID:
815629
Concept ID:
C3809299
Disease or Syndrome
Synonym: CORD18
 
Gene (location): RAB28 (4p15.33)
 
Monarch Initiative: MONDO:0014153
OMIM®: 615374

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
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Foveal hyperpigmentation
MedGen UID:
815631
Concept ID:
C3809301
Finding
Increased amount of pigmentation in the fovea centralis.
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.
Foveal atrophy
MedGen UID:
927611
Concept ID:
C4293702
Pathologic Function
Partial or complete loss of foveal tissue that was once present.

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
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
Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE
Retina 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. PMID: 19952985

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
Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):19. doi: 10.1167/iovs.64.12.19. PMID: 37695603Free PMC Article
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I
Int J Mol Sci 2022 Jun 28;23(13) doi: 10.3390/ijms23137189. PMID: 35806195Free PMC Article
Barboni MTS, Dias SL, Silva LA, Damico FM, Vidal KS, Costa MF, Nagy BV, Kremers J, Ventura DF
Invest Ophthalmol Vis Sci 2021 Apr 1;62(4):29. doi: 10.1167/iovs.62.4.29. PMID: 33891680Free PMC Article
Galli-Resta L, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Resta G, Falsini B
Invest Ophthalmol Vis Sci 2013 Oct 9;54(10):6560-9. doi: 10.1167/iovs.13-12676. PMID: 24008410

Diagnosis

Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Zou X, Yao F, Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R
Mol Vis 2021;27:221-232. Epub 2021 May 7 PMID: 34012225Free PMC Article
Barboni MTS, Dias SL, Silva LA, Damico FM, Vidal KS, Costa MF, Nagy BV, Kremers J, Ventura DF
Invest Ophthalmol Vis Sci 2021 Apr 1;62(4):29. doi: 10.1167/iovs.62.4.29. PMID: 33891680Free PMC Article
Hathibelagal AR, Bharadwaj SR, Jalali S, Subramanian A, Barbur JL
Ophthalmic Physiol Opt 2021 Jul;41(4):874-884. Epub 2021 Apr 9 doi: 10.1111/opo.12799. PMID: 33834501
Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM
Invest Ophthalmol Vis Sci 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. PMID: 30913292

Therapy

Almubaiyd AM, Bin Helayel H, Al-Swailem SA
Am J Case Rep 2023 Jun 30;24:e939940. doi: 10.12659/AJCR.939940. PMID: 37386760Free PMC Article
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
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
Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F
Mol Ther 2014 Feb;22(2):265-277. Epub 2013 Oct 4 doi: 10.1038/mt.2013.232. PMID: 24091916Free PMC Article

Prognosis

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
Galli-Resta L, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Resta G, Falsini B
Invest Ophthalmol Vis Sci 2013 Oct 9;54(10):6560-9. doi: 10.1167/iovs.13-12676. PMID: 24008410
Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR
Br J Ophthalmol 2013 Feb;97(2):169-73. Epub 2012 Nov 10 doi: 10.1136/bjophthalmol-2012-302355. PMID: 23143909
Palczewski K, Sokal I, Baehr W
Biochem Biophys Res Commun 2004 Oct 1;322(4):1123-30. doi: 10.1016/j.bbrc.2004.07.122. PMID: 15336959
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

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
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Prokofyeva E, Troeger E, Bernd A, Zrenner E
Ophthalmic Physiol Opt 2012 Jan;32(1):53-9. Epub 2011 Nov 18 doi: 10.1111/j.1475-1313.2011.00883.x. PMID: 22098483
Palczewski K, Sokal I, Baehr W
Biochem Biophys Res Commun 2004 Oct 1;322(4):1123-30. doi: 10.1016/j.bbrc.2004.07.122. PMID: 15336959

Recent systematic reviews

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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