U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal fundus morphology

MedGen UID:
871316
Concept ID:
C4025804
Anatomical Abnormality
Synonym: Abnormality of the fundus
 
HPO: HP:0001098

Definition

Any structural abnormality of the fundus of the eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal fundus morphology

Conditions with this feature

Myopia 6
MedGen UID:
324696
Concept ID:
C1837148
Disease or Syndrome
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.
Autosomal recessive nonsyndromic hearing loss 67
MedGen UID:
343997
Concept ID:
C1853223
Disease or Syndrome
Autosomal recessive deafness-67 (DFNB67) is characterized by congenital bilateral severe to profound sensorineural deafness, with or without vestibular dysfunction (Shabbir et al., 2006; Kalay et al., 2006; Lerat et al., 2019).
Congenital stationary night blindness autosomal dominant 2
MedGen UID:
361814
Concept ID:
C1876182
Disease or Syndrome
Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
Autosomal recessive nonsyndromic hearing loss 63
MedGen UID:
409872
Concept ID:
C1969621
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.
Hearing loss, autosomal recessive 100
MedGen UID:
1682525
Concept ID:
C5193087
Disease or Syndrome
DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement (Yousaf et al., 2018).

Professional guidelines

PubMed

Tack J, Camilleri M
Curr Opin Pharmacol 2018 Dec;43:111-117. Epub 2018 Sep 21 doi: 10.1016/j.coph.2018.08.015. PMID: 30245474
Anantharaman G, Sheth J, Bhende M, Narayanan R, Natarajan S, Rajendran A, Manayath G, Sen P, Biswas R, Banker A, Gupta C
Indian J Ophthalmol 2018 Jul;66(7):896-908. doi: 10.4103/ijo.IJO_1136_17. PMID: 29941728Free PMC Article
De La Paz MA, Boniuk M
Surv Ophthalmol 1995 Jul-Aug;40(1):3-21. doi: 10.1016/s0039-6257(95)80043-3. PMID: 8545800

Recent clinical studies

Etiology

Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513
Chronister CL, Nyman NN, Meccariello AF
Optom Vis Sci 1991 Sep;68(9):747-9. doi: 10.1097/00006324-199109000-00013. PMID: 1745503

Diagnosis

Vigués-Jorba L, Abia Serrano M, Mascaró Zamora F
J Fr Ophtalmol 2019 Apr;42(4):423-424. Epub 2019 Mar 14 doi: 10.1016/j.jfo.2018.09.017. PMID: 30879833
Rabiolo A, De Vitis LA, Sacconi R, Carnevali A, Querques L, Bandello F, Querques G
Dev Ophthalmol 2017;60:50-55. Epub 2017 Apr 20 doi: 10.1159/000459689. PMID: 28427064
Soubrane G
Dev Ophthalmol 2017;58:202-219. Epub 2017 Mar 28 doi: 10.1159/000455282. PMID: 28351049
B S G, Pai GS, Pai AH, Vinekar AS, Pai HS, Noronha T, Fernandes MS
Kathmandu Univ Med J (KUMJ) 2013 Jan-Mar;11(41):91-3. doi: 10.3126/kumj.v11i1.11052. PMID: 23774424
Lima LH, Laud K, Chang LK, Yannuzzi LA
Br J Ophthalmol 2011 Sep;95(9):1333-4. Epub 2010 Aug 3 doi: 10.1136/bjo.2009.176800. PMID: 20682950

Therapy

Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Zaugg BE, Bell JE, Taylor KY, Bernstein PS
Retin Cases Brief Rep 2017 Winter;11(1):38-43. doi: 10.1097/ICB.0000000000000283. PMID: 26909536
Zamir E, Kaiserman I, Chowers I
Am J Ophthalmol 1999 Jun;127(6):728-9. doi: 10.1016/s0002-9394(99)00017-3. PMID: 10372889
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513
Millay RH, Klein ML, Illingworth DR
Ophthalmology 1988 Jul;95(7):930-6. doi: 10.1016/s0161-6420(88)33073-3. PMID: 3174043

Prognosis

Rabiolo A, De Vitis LA, Sacconi R, Carnevali A, Querques L, Bandello F, Querques G
Dev Ophthalmol 2017;60:50-55. Epub 2017 Apr 20 doi: 10.1159/000459689. PMID: 28427064
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Witmer MT, Margo CE, Drucker M
Surv Ophthalmol 2010 Sep-Oct;55(5):403-28. Epub 2010 Jul 10 doi: 10.1016/j.survophthal.2010.01.002. PMID: 20621322
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699
Blodi CF, Stone EM
Ophthalmic Paediatr Genet 1990 Mar;11(1):49-59. PMID: 2190134

Clinical prediction guides

Kim MS, Moon JH, Lee MW, Cho KH
PLoS One 2022;17(1):e0263352. Epub 2022 Jan 31 doi: 10.1371/journal.pone.0263352. PMID: 35100315Free PMC Article
Le Rouic JF, Brejtfus-Thomas J
Ophthalmic Surg Lasers Imaging Retina 2018 Dec 1;49(12):e284-e286. doi: 10.3928/23258160-20181203-20. PMID: 30566715
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Pian D, Ferrucci S, Anderson SF, Wu C
Optom Vis Sci 2003 Aug;80(8):556-63. doi: 10.1097/00006324-200308000-00008. PMID: 12917574
Berninger TA, Bird AC, Arden GB
Ophthalmic Paediatr Genet 1989 Sep;10(3):211-27. doi: 10.3109/13816818909009877. PMID: 2685705

Recent systematic reviews

Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE
Ophthalmology 2024 May;131(5):622-633. Epub 2023 Dec 12 doi: 10.1016/j.ophtha.2023.12.014. PMID: 38092079
Hou X, Guo Y, Liu J, Li S, Fan W, Lin M, Rokohl AC, Heindl LM
Curr Eye Res 2021 Jul;46(7):913-918. Epub 2021 Jan 22 doi: 10.1080/02713683.2020.1853779. PMID: 33478254
Meng L, Zhao X, Zhang W, Wang D, Chen Y
Acta Ophthalmol 2021 Nov;99(7):e1176-e1189. Epub 2021 Jan 9 doi: 10.1111/aos.14730. PMID: 33421324
Møller-Lorentzen TB, Eckmann-Hansen C, Faber C, Larsen M, Subhi Y
Acta Ophthalmol 2020 Dec;98(8):755-762. Epub 2020 May 15 doi: 10.1111/aos.14465. PMID: 32410360
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...