U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cone dystrophy

MedGen UID:
676499
•Concept ID:
C0730290
•
Disease or Syndrome
Synonyms: Cone Dystrophies; Cone Dystrophy; Dystrophies, Cone; Dystrophy, Cone
SNOMED CT: Cone dystrophy (312917007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0000455
Orphanet: ORPHA1871

Definition

A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone dystrophy

Professional guidelines

PubMed

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.
Talib M, Boon CJF
Asia Pac J Ophthalmol (Phila) 2020 May-Jun;9(3):159-179. doi: 10.1097/APO.0000000000000290. PMID: 32511120Free PMC Article
Laser treatment in retinitis pigmentosa-a review.
Gawęcki M
Lasers Med Sci 2020 Oct;35(8):1663-1670. Epub 2020 May 20 doi: 10.1007/s10103-020-03036-9. PMID: 32435907

Recent clinical studies

Etiology

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Ciliopathy: Usher Syndrome.
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
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:53-60. doi: 10.1007/978-3-319-95046-4_12. PMID: 30578485
Non-syndromic retinitis pigmentosa.
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
The cone dystrophies.
Simunovic MP, Moore AT
Eye (Lond) 1998;12 ( Pt 3b):553-65. doi: 10.1038/eye.1998.145. PMID: 9775217

Diagnosis

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Non-syndromic retinitis pigmentosa.
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
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Preclinical investigations on broccoli-derived sulforaphane for the treatment of ophthalmic disease.
Kwa FAA, Bui BV, Thompson BR, Ayton LN
Drug Discov Today 2023 Sep;28(9):103718. Epub 2023 Jul 17 doi: 10.1016/j.drudis.2023.103718. PMID: 37467881
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
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
Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.
Kalatzis V, Roux AF, Meunier I
Mol Diagn Ther 2021 Nov;25(6):661-675. Epub 2021 Oct 18 doi: 10.1007/s40291-021-00558-y. PMID: 34661884
Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy.
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE
Int J Mol Sci 2020 Aug 22;21(17) doi: 10.3390/ijms21176055. PMID: 32842706Free PMC Article
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article

Prognosis

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
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
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC, Georgiou M, Robson AG, Michaelides M
Ophthalmic Genet 2020 Jun;41(3):208-215. Epub 2020 May 22 doi: 10.1080/13816810.2020.1766087. PMID: 32441199Free PMC Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
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
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Mizuo-Nakamura Phenomena.
Mittal K, Chawla R
Ophthalmic Surg Lasers Imaging Retina 2016 Nov 1;47(11):1068. doi: 10.3928/23258160-20161031-14. PMID: 27842204

Recent systematic reviews

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
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
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
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
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...