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Cone/cone-rod dystrophy

MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
Synonyms: Cone-rod degeneration; Cone-rod dystrophy; PRPH2-Related Cone-Rod Dystrophy; UNC119-Related Cone-Rod Dystrophy
Modes of inheritance:
 
PRPH2 (6p21.1)
 
HPO: HP:0000548
Monarch Initiative: MONDO:0015993
OMIM® Phenotypic series: PS120970
Orphanet: ORPHA1872

Definition

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.

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).

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. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone/cone-rod dystrophy

Conditions with this feature

Professional guidelines

PubMed

Wang WC, Huang CH, Chung HH, Chen PL, Hu FR, Yang CH, Yang CM, Lin CW, Hsu CC, Chen TC
Nat Commun 2024 Apr 26;15(1):3562. doi: 10.1038/s41467-024-47911-3. PMID: 38670966Free PMC Article
Shoemaker A
Diabetes Obes Metab 2024 Apr;26 Suppl 2:25-33. Epub 2024 Feb 21 doi: 10.1111/dom.15494. PMID: 38383825
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

Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C
Genet Med 2024 Jun;26(6):101106. Epub 2024 Feb 28 doi: 10.1016/j.gim.2024.101106. PMID: 38420906
Kim DJ, Woo SJ, Joo K
Ophthalmic Res 2024;67(1):9-22. Epub 2023 Dec 13 doi: 10.1159/000535430. PMID: 38091967
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M
Am J Ophthalmol 2023 Oct;254:87-103. Epub 2023 Jun 15 doi: 10.1016/j.ajo.2023.05.015. PMID: 37327959
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
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article

Diagnosis

Kim DJ, Woo SJ, Joo K
Ophthalmic Res 2024;67(1):9-22. Epub 2023 Dec 13 doi: 10.1159/000535430. PMID: 38091967
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M
Am J Ophthalmol 2023 Oct;254:87-103. Epub 2023 Jun 15 doi: 10.1016/j.ajo.2023.05.015. PMID: 37327959
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I
Hum Mutat 2020 Jan;41(1):140-149. Epub 2019 Sep 15 doi: 10.1002/humu.23903. PMID: 31456290
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Oishi A, Oishi M, Ogino K, Morooka S, Yoshimura N
Adv Exp Med Biol 2016;854:307-13. doi: 10.1007/978-3-319-17121-0_41. PMID: 26427426

Prognosis

Mees L, Li M, Antonio-Aguirre B, Liu TYA, Wu A, Kong X, Singh MS
Ophthalmol Retina 2024 Sep;8(9):924-931. Epub 2024 Mar 12 doi: 10.1016/j.oret.2024.03.005. PMID: 38485090Free PMC Article
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
Hadalin V, Šuštar M, Volk M, Maver A, Sajovic J, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040499. PMID: 33805381Free PMC Article
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF
Invest Ophthalmol Vis Sci 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. PMID: 30105367
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article

Clinical prediction guides

Kim DJ, Woo SJ, Joo K
Ophthalmic Res 2024;67(1):9-22. Epub 2023 Dec 13 doi: 10.1159/000535430. PMID: 38091967
Hadalin V, Šuštar M, Volk M, Maver A, Sajovic J, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040499. PMID: 33805381Free PMC Article
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF
Invest Ophthalmol Vis Sci 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. PMID: 30105367

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