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

Autosomal recessive nonsyndromic hearing loss 67
MedGen UID:
343997
Concept ID:
C1853223
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.
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).
Prolonged electroretinal response suppression 1
MedGen UID:
1840510
Concept ID:
C5829874
Finding
Prolonged electroretinal response suppression 2
MedGen UID:
1841088
Concept ID:
C5830452
Finding
Prolonged electroretinal response suppression-2 (PERRS2), also referred to as bradyopsia-2, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010). For a discussion of genetic heterogeneity of prolonged electroretinal response suppression (PERRS), see 608415.

Professional guidelines

PubMed

Ho CPS, Lai TYY
Indian J Ophthalmol 2018 Dec;66(12):1727-1735. doi: 10.4103/ijo.IJO_975_18. PMID: 30451173Free PMC Article
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

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
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group
N Engl J Med 2020 Apr 30;382(18):1687-1695. Epub 2020 Apr 14 doi: 10.1056/NEJMoa1917130. PMID: 32286748
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: 23332590
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513

Diagnosis

Wakabayashi T, Yonekawa Y, Ohno-Matsui K, Cohen SY, Rowland C, Pulido JS
Retin Cases Brief Rep 2024 Jan 1;18(1):11-14. doi: 10.1097/ICB.0000000000001308. PMID: 36007179
Cheung CMG, Lee WK, Koizumi H, Dansingani K, Lai TYY, Freund KB
Eye (Lond) 2019 Jan;33(1):14-33. Epub 2018 Jul 11 doi: 10.1038/s41433-018-0158-4. PMID: 29995841Free PMC Article
Pichi F, Aggarwal K, Neri P, Salvetti P, Lembo A, Nucci P, Gemmy Cheung CM, Gupta V
Indian J Ophthalmol 2018 Dec;66(12):1716-1726. doi: 10.4103/ijo.IJO_893_18. PMID: 30451172Free PMC Article
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: 23332590

Therapy

Greenstein VC, Lima de Carvalho JR Jr, Parmann R, Amaro-Quireza L, Lee W, Hood DC, Tsang SH, Sparrow JR
Invest Ophthalmol Vis Sci 2020 Sep 1;61(11):41. doi: 10.1167/iovs.61.11.41. PMID: 32976563Free PMC Article
Ho CPS, Lai TYY
Indian J Ophthalmol 2018 Dec;66(12):1727-1735. doi: 10.4103/ijo.IJO_975_18. PMID: 30451173Free PMC Article
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
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
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513

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: 23332590
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
Merin S, Auerbach E
Surv Ophthalmol 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6. PMID: 817406

Clinical prediction guides

Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD
Ophthalmic Genet 2021 Feb;42(1):71-74. Epub 2020 Sep 17 doi: 10.1080/13816810.2020.1821384. PMID: 32940091
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group
N Engl J Med 2020 Apr 30;382(18):1687-1695. Epub 2020 Apr 14 doi: 10.1056/NEJMoa1917130. PMID: 32286748
Sergott RC
J Neuroophthalmol 2014 Sep;34 Suppl:S24-8. doi: 10.1097/WNO.0000000000000164. PMID: 25133967
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: 23332590
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819

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
Akkaya S
Int Ophthalmol 2018 Oct;38(5):2239-2246. Epub 2017 Aug 1 doi: 10.1007/s10792-017-0666-4. PMID: 28766279
Borooah S, Collins C, Wright A, Dhillon B
Br J Ophthalmol 2009 Mar;93(3):284-9. Epub 2008 Dec 19 doi: 10.1136/bjo.2008.150151. PMID: 19098033

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...