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Hereditary eye diseases

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
Synonyms: Eye Disease, Hereditary; Eye Diseases, Hereditary; Hereditary Eye Disease; Hereditary Eye Diseases

Definition

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary eye diseases

Professional guidelines

PubMed

Díazceballos-García AL, Matsui R, Chairez Miranda MG, Rosales Padrón JF, Graue-Wiechers F, Zenteno JC
Int Ophthalmol 2024 Dec 7;45(1):1. doi: 10.1007/s10792-024-03260-0. PMID: 39644342Free PMC Article
Xu X, Wang P, Jia X, Sun W, Li S, Xiao X, Hejtmancik JF, Zhang Q
Mol Genet Genomics 2021 Jul;296(4):845-862. Epub 2021 Apr 21 doi: 10.1007/s00438-021-01783-0. PMID: 33884488

Recent clinical studies

Etiology

Zhong L, Dhallan A, Lueder GT, Reynolds MM
J AAPOS 2025 Feb;29(1):104118. Epub 2025 Jan 28 doi: 10.1016/j.jaapos.2025.104118. PMID: 39884496
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA
Ophthalmology 2017 Sep;124(9):1314-1331. Epub 2017 May 27 doi: 10.1016/j.ophtha.2017.04.008. PMID: 28559085Free PMC Article
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Diagnosis

Zhong L, Dhallan A, Lueder GT, Reynolds MM
J AAPOS 2025 Feb;29(1):104118. Epub 2025 Jan 28 doi: 10.1016/j.jaapos.2025.104118. PMID: 39884496
Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Solebo AL, Teoh L, Rahi J
Arch Dis Child 2017 Sep;102(9):853-857. Epub 2017 May 2 doi: 10.1136/archdischild-2016-310532. PMID: 28465303

Therapy

Turati F, Bravi F, Rossi M, Serraino D, Mattioli V, Augustin L, Crispo A, Giacosa A, Negri E, La Vecchia C
Eur J Cancer Prev 2022 Jul 1;31(4):339-345. Epub 2021 Aug 16 doi: 10.1097/CEJ.0000000000000709. PMID: 34406178Free PMC Article
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Feltgen N, Walter P
Dtsch Arztebl Int 2014 Jan 6;111(1-2):12-21; quiz 22. doi: 10.3238/arztebl.2014.0012. PMID: 24565273Free PMC Article
Nussenblatt RB, Liu B, Wei L, Sen HN
Int Rev Immunol 2013 Feb;32(1):97-112. doi: 10.3109/08830185.2012.740536. PMID: 23360161
Sahel JA
Retina 2005 Dec;25(8 Suppl):S38-S39. doi: 10.1097/00006982-200512001-00015. PMID: 16374327

Prognosis

Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Lipscomb PM, Reddy AK
JAMA Ophthalmol 2016 Apr;134(4):459-60. doi: 10.1001/jamaophthalmol.2015.3646. PMID: 26913929
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Gillespie RL, Hall G, Black GC
Clin Exp Ophthalmol 2014 Jan-Feb;42(1):65-77. Epub 2013 Aug 21 doi: 10.1111/ceo.12159. PMID: 23845030
Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW
J Am Soc Nephrol 2010 May;21(5):876-83. Epub 2010 Apr 8 doi: 10.1681/ASN.2009070784. PMID: 20378821Free PMC Article

Clinical prediction guides

Yun Y, Jeong H, Laboute T, Martemyanov KA, Lee HH
Nat Commun 2024 Sep 27;15(1):8299. doi: 10.1038/s41467-024-52584-z. PMID: 39333506Free PMC Article
Baiyasi A, Barbosa J, Parendo A, Lin X
Eur J Ophthalmol 2022 Nov;32(6):NP10-NP12. Epub 2021 Jul 27 doi: 10.1177/11206721211035611. PMID: 34313156
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Diamond GR
Curr Opin Ophthalmol 1995 Dec;6(6):70-6. doi: 10.1097/00055735-199512000-00012. PMID: 10160422

Recent systematic reviews

Wang X, Chen J, Xiong H, Yu X
PLoS One 2022;17(7):e0271326. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0271326. PMID: 35830446Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

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