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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

Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A
Diabetes Obes Metab 2024 Apr;26 Suppl 2:25-33. Epub 2024 Feb 21 doi: 10.1111/dom.15494. PMID: 38383825
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

Recent clinical studies

Etiology

Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Rajabian F, Manitto MP, Palombo F, Caporali L, Grazioli A, Starace V, Arrigo A, Cascavilla ML, La Morgia C, Barboni P, Bandello F, Carelli V, Battaglia Parodi M
J Neuroophthalmol 2021 Sep 1;41(3):e290-e292. doi: 10.1097/WNO.0000000000001124. PMID: 33136666
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
Unilateral retinitis pigmentosa. A case report.
Nazar C, Feldman M, González R, Espinoza R
Arch Soc Esp Oftalmol 2017 Jun;92(6):287-290. Epub 2016 Oct 25 doi: 10.1016/j.oftal.2016.09.004. PMID: 27793487

Diagnosis

Short Stature With Optic Atrophy and Cone Dystrophy.
Seo Y, Kim SS, Han J
JAMA Ophthalmol 2021 Aug 1;139(8):910-911. doi: 10.1001/jamaophthalmol.2020.5777. PMID: 34110364
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

Dietary Supplementation for Retinitis Pigmentosa: A Report by the American Academy of Ophthalmology.
Jain N, Maguire MG, Flaxel CJ, Kim SJ, Patel S, Smith JR, Weng CY, Kim LA, Yeh S
Ophthalmology 2025 Mar;132(3):354-367. Epub 2024 Oct 23 doi: 10.1016/j.ophtha.2024.09.004. PMID: 39453328
Thiamine-responsive megaloblastic anaemia.
Veetil VM, Pachat D, Nikitha K, Kutty JM
Natl Med J India 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. PMID: 38759983
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
Pars planitis and rod-cone dystrophy.
Neetens A, Smets RM
Bull Soc Belge Ophtalmol 1983;207:85-91. PMID: 6333906

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
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Rajabian F, Manitto MP, Palombo F, Caporali L, Grazioli A, Starace V, Arrigo A, Cascavilla ML, La Morgia C, Barboni P, Bandello F, Carelli V, Battaglia Parodi M
J Neuroophthalmol 2021 Sep 1;41(3):e290-e292. doi: 10.1097/WNO.0000000000001124. PMID: 33136666
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
Unilateral retinitis pigmentosa. A case report.
Nazar C, Feldman M, González R, Espinoza R
Arch Soc Esp Oftalmol 2017 Jun;92(6):287-290. Epub 2016 Oct 25 doi: 10.1016/j.oftal.2016.09.004. PMID: 27793487
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

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V
HGG Adv 2023 Oct 12;4(4):100229. Epub 2023 Aug 7 doi: 10.1016/j.xhgg.2023.100229. PMID: 37654703Free PMC Article
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
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
Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.232. PMID: 21267011Free PMC Article

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

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      Clinical tests in GTR
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