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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

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
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

Dominant Stickler Syndrome.
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
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
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
Epidemiology of blindness in children.
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
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
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
Familial exudative vitreoretinopathy and related retinopathies.
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

Congenital alacrima.
Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Diagnosis and genetics of alacrima.
Adams J, Schaaf CP
Clin Genet 2018 Jul;94(1):54-60. Epub 2018 Feb 5 doi: 10.1111/cge.13173. PMID: 29120068
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Epidemiology of blindness in children.
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
Neuro-ophthalmic genetics.
Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101

Therapy

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
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
Optogenetic approaches to vision restoration.
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
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Adaptive optics imaging of inherited retinal diseases.
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
Ophthalmic genetics/inherited eye disease.
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Prognosis

Non-infectious and non-hereditary diseases of the corneal epithelium.
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
Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
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
Inherited macular dystrophies and differential diagnostics.
Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Zaliūnienė D, Jašinskas V
Medicina (Kaunas) 2012;48(9):485-95. PMID: 23168924

Clinical prediction guides

Congenital Stationary Night Blindness: Clinical and Genetic Features.
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
Intracranial hypertension: a current review.
Jordan CO, Aylward SC
Curr Opin Pediatr 2018 Dec;30(6):764-774. doi: 10.1097/MOP.0000000000000689. PMID: 30188410
Screening, genetics, risk factors, and treatment of neonatal cataracts.
Li J, Xia CH, Wang E, Yao K, Gong X
Birth Defects Res 2017 Jun 1;109(10):734-743. Epub 2017 May 22 doi: 10.1002/bdr2.1050. PMID: 28544770Free PMC Article
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
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
Gender specific issues in hereditary ocular disorders.
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

Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
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
Vitamin A and fish oils for retinitis pigmentosa.
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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