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Kayser-Fleischer ring

MedGen UID:
57539
Concept ID:
C0152457
Disease or Syndrome
Synonym: Fleischer ring
SNOMED CT: Kayser-Fleischer ring (77103006)
 
HPO: HP:0200032

Definition

Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Kayser-Fleischer ring

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.

Professional guidelines

PubMed

Lössner A, Lössner J, Bachmann H, Zotter J
Graefes Arch Clin Exp Ophthalmol 1986;224(2):152-5. doi: 10.1007/BF02141489. PMID: 3949188
Mitchell AM, Heller GL
Arch Ophthalmol 1968 Nov;80(5):622-31. doi: 10.1001/archopht.1968.00980050624008. PMID: 5684310

Recent clinical studies

Etiology

Nilles C, Obadia MA, Sobesky R, Dumortier J, Guillaud O, Laurencin C, Moreau C, Vanlemmens C, Ory-Magne F, de Ledinghen V, Bardou-Jacquet E, Fluchère F, Collet C, Oussedik-Djebrani N, Woimant F, Poujois A
Mov Disord 2023 Feb;38(2):321-332. Epub 2022 Dec 27 doi: 10.1002/mds.29292. PMID: 36573661
Zhao T, Fang Z, Tian J, Liu J, Xiao Y, Li H, Chen B
Cornea 2019 Mar;38(3):332-337. doi: 10.1097/ICO.0000000000001844. PMID: 30601285
Sridhar MS, Rangaraju A, Anbarasu K, Reddy SP, Daga S, Jayalakshmi S, Shaik B
Indian J Ophthalmol 2017 May;65(5):354-357. doi: 10.4103/ijo.IJO_400_16. PMID: 28573989Free PMC Article
Youn J, Kim JS, Kim HT, Lee JY, Lee PH, Ki CS, Cho JW
J Neurol Sci 2012 Dec 15;323(1-2):183-6. Epub 2012 Oct 5 doi: 10.1016/j.jns.2012.09.013. PMID: 23043908
Fenu M, Liggi M, Demelia E, Sorbello O, Civolani A, Demelia L
Eur J Intern Med 2012 Sep;23(6):e150-6. Epub 2012 May 14 doi: 10.1016/j.ejim.2012.04.005. PMID: 22863441

Diagnosis

Degirmenci C, Palamar M
Eur J Ophthalmol 2021 Jul;31(4):2116-2120. Epub 2020 Jun 9 doi: 10.1177/1120672120931025. PMID: 32515229
Arora N, Bhat P, Goel R, Pannu AK, Malhotra P, Suri V
QJM 2020 May 1;113(5):361. doi: 10.1093/qjmed/hcz221. PMID: 31432083
Członkowska A, Litwin T, Chabik G
Handb Clin Neurol 2017;142:101-119. doi: 10.1016/B978-0-444-63625-6.00010-0. PMID: 28433096
Walshe JM
Br J Hosp Med (Lond) 2014 Mar;75(3):C38-9. doi: 10.12968/hmed.2014.75.sup3.c38. PMID: 24621667
Suvarna JC
J Postgrad Med 2008 Jul-Sep;54(3):238-40. doi: 10.4103/0022-3859.41816. PMID: 18626182

Therapy

Nilles C, Obadia MA, Sobesky R, Dumortier J, Guillaud O, Laurencin C, Moreau C, Vanlemmens C, Ory-Magne F, de Ledinghen V, Bardou-Jacquet E, Fluchère F, Collet C, Oussedik-Djebrani N, Woimant F, Poujois A
Mov Disord 2023 Feb;38(2):321-332. Epub 2022 Dec 27 doi: 10.1002/mds.29292. PMID: 36573661
Khurana S, Gupta PC, Ram J
Indian J Ophthalmol 2019 Oct;67(10):1724. doi: 10.4103/ijo.IJO_957_19. PMID: 31546533Free PMC Article
Fenu M, Liggi M, Demelia E, Sorbello O, Civolani A, Demelia L
Eur J Intern Med 2012 Sep;23(6):e150-6. Epub 2012 May 14 doi: 10.1016/j.ejim.2012.04.005. PMID: 22863441
Das SK, Ray K
Nat Clin Pract Neurol 2006 Sep;2(9):482-93. doi: 10.1038/ncpneuro0291. PMID: 16932613
Liu M, Cohen EJ, Brewer GJ, Laibson PR
Am J Ophthalmol 2002 Jun;133(6):832-4. doi: 10.1016/s0002-9394(02)01408-3. PMID: 12036681

Prognosis

Nilles C, Obadia MA, Sobesky R, Dumortier J, Guillaud O, Laurencin C, Moreau C, Vanlemmens C, Ory-Magne F, de Ledinghen V, Bardou-Jacquet E, Fluchère F, Collet C, Oussedik-Djebrani N, Woimant F, Poujois A
Mov Disord 2023 Feb;38(2):321-332. Epub 2022 Dec 27 doi: 10.1002/mds.29292. PMID: 36573661
Poujois A, Sobesky R, Meissner WG, Brunet AS, Broussolle E, Laurencin C, Lion-François L, Guillaud O, Lachaux A, Maillot F, Belin J, Salamé E, Vanlemmens C, Heyd B, Bellesme C, Habes D, Bureau C, Ory-Magne F, Chaine P, Trocello JM, Cherqui D, Samuel D, de Ledinghen V, Duclos-Vallée JC, Woimant F
Neurology 2020 May 26;94(21):e2189-e2202. Epub 2020 May 12 doi: 10.1212/WNL.0000000000009474. PMID: 32398357
Broniek-Kowalik K, Dzieżyc K, Litwin T, Członkowska A, Szaflik JP
Acta Ophthalmol 2019 Aug;97(5):e757-e760. Epub 2019 Jan 11 doi: 10.1111/aos.14009. PMID: 30635971
Sridhar MS, Rangaraju A, Anbarasu K, Reddy SP, Daga S, Jayalakshmi S, Shaik B
Indian J Ophthalmol 2017 May;65(5):354-357. doi: 10.4103/ijo.IJO_400_16. PMID: 28573989Free PMC Article
Fenu M, Liggi M, Demelia E, Sorbello O, Civolani A, Demelia L
Eur J Intern Med 2012 Sep;23(6):e150-6. Epub 2012 May 14 doi: 10.1016/j.ejim.2012.04.005. PMID: 22863441

Clinical prediction guides

Degirmenci C, Palamar M
Eur J Ophthalmol 2021 Jul;31(4):2116-2120. Epub 2020 Jun 9 doi: 10.1177/1120672120931025. PMID: 32515229
Sridhar MS, Rangaraju A, Anbarasu K, Reddy SP, Daga S, Jayalakshmi S, Shaik B
Indian J Ophthalmol 2017 May;65(5):354-357. doi: 10.4103/ijo.IJO_400_16. PMID: 28573989Free PMC Article
Youn J, Kim JS, Kim HT, Lee JY, Lee PH, Ki CS, Cho JW
J Neurol Sci 2012 Dec 15;323(1-2):183-6. Epub 2012 Oct 5 doi: 10.1016/j.jns.2012.09.013. PMID: 23043908
Fenu M, Liggi M, Demelia E, Sorbello O, Civolani A, Demelia L
Eur J Intern Med 2012 Sep;23(6):e150-6. Epub 2012 May 14 doi: 10.1016/j.ejim.2012.04.005. PMID: 22863441
Das SK, Ray K
Nat Clin Pract Neurol 2006 Sep;2(9):482-93. doi: 10.1038/ncpneuro0291. PMID: 16932613

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