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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

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

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
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
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
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
Gilmour DF
Eye (Lond) 2015 Jan;29(1):1-14. Epub 2014 Oct 17 doi: 10.1038/eye.2014.70. PMID: 25323851Free PMC Article

Diagnosis

Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Adams J, Schaaf CP
Clin Genet 2018 Jul;94(1):54-60. Epub 2018 Feb 5 doi: 10.1111/cge.13173. PMID: 29120068
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
Wuthisiri W, Lingao MD, Capasso JE, Levin AV
Curr Opin Ophthalmol 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. PMID: 23892913

Therapy

Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480Free PMC Article
Simunovic MP, Shen W, Lin JY, Protti DA, Lisowski L, Gillies MC
Exp Eye Res 2019 Jan;178:15-26. Epub 2018 Sep 13 doi: 10.1016/j.exer.2018.09.003. PMID: 30218651
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Georgiou M, Kalitzeos A, Patterson EJ, Dubra A, Carroll J, Michaelides M
Br J Ophthalmol 2018 Aug;102(8):1028-1035. Epub 2017 Nov 15 doi: 10.1136/bjophthalmol-2017-311328. PMID: 29141905Free PMC Article
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Prognosis

Burdon KP
Clin Exp Ophthalmol 2021 Aug;49(6):615-625. Epub 2021 Jul 23 doi: 10.1111/ceo.13970. PMID: 34231298
Voss K, Nguyen A, Heur M
Exp Eye Res 2021 Jan;202:108316. Epub 2020 Oct 21 doi: 10.1016/j.exer.2020.108316. PMID: 33098887
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
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

Clinical prediction guides

Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
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
Iragavarapu S, Gorin MB
Curr Eye Res 2015 Feb;40(2):128-45. Epub 2014 Jul 14 doi: 10.3109/02713683.2014.932813. PMID: 25019185

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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