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Cone-rod dystrophy 24(CORD24)

MedGen UID:
1841082
Concept ID:
C5830446
Disease or Syndrome
Synonym: CORD24
 
Gene (location): UNC119 (17q11.2)
 
Monarch Initiative: MONDO:0957240
OMIM®: 620342

Definition

Cone-rod dystrophy-24 (CORD24) is characterized by night blindness, defective color vision, and reduced visual acuity. Macular atrophy, macular pigmentation deposits, and drusen-like deposits in the macula have been observed. Age at onset varies widely, from the first to the sixth decades of live (Kobayashi et al., 2000; Huang et al., 2013; Zenteno et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970). [from OMIM]

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.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Scotoma
MedGen UID:
19902
Concept ID:
C0036454
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Macular drusen
MedGen UID:
671266
Concept ID:
C0677628
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.
Pericentral scotoma
MedGen UID:
231156
Concept ID:
C1321308
Finding
A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
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.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Professional guidelines

PubMed

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
Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM
Ophthalmic Genet 2020 Aug;41(4):331-337. Epub 2020 Jun 16 doi: 10.1080/13816810.2020.1778736. PMID: 32543920
Yi Z, Xiao X, Li S, Sun W, Zhang Q
Exp Eye Res 2019 Dec;189:107846. Epub 2019 Oct 15 doi: 10.1016/j.exer.2019.107846. PMID: 31626798

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
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free PMC Article
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
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
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259

Diagnosis

Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
Fardeau C, Alafaleq M, Ferchaud MA, Hié M, Besnard C, Meynier S, Rieux-Laucat F, Roos-Weil D, Cohen F, Meunier I
Int J Mol Sci 2022 Jul 17;23(14) doi: 10.3390/ijms23147868. PMID: 35887217Free PMC Article
Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V
Sci Rep 2022 Jun 7;12(1):9358. doi: 10.1038/s41598-022-13026-2. PMID: 35672425Free PMC Article
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Jalili IK
Eye (Lond) 2010 Nov;24(11):1659-68. Epub 2010 Aug 13 doi: 10.1038/eye.2010.103. PMID: 20706282

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
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
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872
Ku CA, Chiodo VA, Boye SL, Hayes A, Goldberg AF, Hauswirth WW, Ramamurthy V
Hum Mol Genet 2015 Feb 1;24(3):670-84. Epub 2014 Sep 30 doi: 10.1093/hmg/ddu487. PMID: 25274777Free 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

Hadalin V, Buscarino M, Sajovic J, Meglič A, Jarc-Vidmar M, Hawlina M, Volk M, Fakin A
Int J Mol Sci 2023 Feb 14;24(4) doi: 10.3390/ijms24043840. PMID: 36835250Free PMC Article
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Bensinger E, Rinella N, Saud A, Loumou P, Ratnam K, Griffin S, Qin J, Porco TC, Roorda A, Duncan JL
Invest Ophthalmol Vis Sci 2019 Jul 1;60(8):3187-3196. doi: 10.1167/iovs.18-26245. PMID: 31335944Free PMC Article
Lima LH, Zett C, Kniggendorf V, Marianelli B, de Carvalho RAP, Farah ME, Sallum JMF
Ophthalmic Genet 2018 Aug;39(4):492-499. Epub 2018 Apr 19 doi: 10.1080/13816810.2018.1461911. PMID: 29671671

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
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free PMC Article
Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2022 Aug 2;63(9):24. doi: 10.1167/iovs.63.9.24. PMID: 35994252Free PMC Article
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
Jalili IK
Eye (Lond) 2010 Nov;24(11):1659-68. Epub 2010 Aug 13 doi: 10.1038/eye.2010.103. PMID: 20706282

Recent systematic reviews

Daher A, Banjak M, Noureldine J, Nehme J, El Shamieh S
BMC Ophthalmol 2024 Apr 15;24(1):167. doi: 10.1186/s12886-024-03419-4. PMID: 38622537Free PMC Article
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

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