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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
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
Stirrat GM
Lancet 1990 Sep 22;336(8717):728-33. doi: 10.1016/0140-6736(90)92215-4. PMID: 1975901

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
Mapelli C, Invernizzi A, Barteselli G, Pellegrini M, Tabacchi E, Staurenghi G, Viola F
Ophthalmologica 2016;236(3):166-174. Epub 2016 Sep 15 doi: 10.1159/000447412. PMID: 27627063
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

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
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
Soubrane G
Dev Ophthalmol 2017;58:202-219. Epub 2017 Mar 28 doi: 10.1159/000455282. PMID: 28351049
Brodsky MC
Surv Ophthalmol 1994 Sep-Oct;39(2):89-112. doi: 10.1016/0039-6257(94)90155-4. PMID: 7801227

Therapy

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
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article
Sener EC, Kiratli H
Acta Ophthalmol Scand 2001 Aug;79(4):428-30. doi: 10.1034/j.1600-0420.2001.079004428.x. PMID: 11453869
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
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
van Dijk EHC, Schellevis RL, Breukink MB, Mohabati D, Dijkman G, Keunen JEE, Yzer S, den Hollander AI, Hoyng CB, de Jong EK, Boon CJF
Retina 2019 Feb;39(2):398-407. doi: 10.1097/IAE.0000000000001966. PMID: 29190234
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: 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

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

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