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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, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.

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

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
Joshi G, Dhingra D, Tekchandani U, Kaushik S
QJM 2019 Aug 1;112(8):629. doi: 10.1093/qjmed/hcz027. PMID: 30690586
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
Datta S, Datta H
Indian Pediatr 2004 Jul;41(7):744. PMID: 15297695

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
Sharawat IK, Kurup A, Sondhi V, Saini L
J Pediatr 2019 Dec;215:280-280.e1. Epub 2019 Jul 31 doi: 10.1016/j.jpeds.2019.06.068. PMID: 31377039
Das SK, Ray K
Nat Clin Pract Neurol 2006 Sep;2(9):482-93. doi: 10.1038/ncpneuro0291. PMID: 16932613
Mitchell AM, Heller GL
Arch Ophthalmol 1968 Nov;80(5):622-31. doi: 10.1001/archopht.1968.00980050624008. PMID: 5684310

Prognosis

Alonso-Castellano P, Tugores A, Mariño Z, Olveira A, Berenguer M, Huarte MP, Fernández-Ramos JR, Lázaro-Ríos M, González-Diéguez ML, Moreno-Planas JM, Hernández-Guerra M, Fernández-Álvarez P, Delgado-Blanco M, Pinazo-Bandera JM, Romero M, Ampuero J, Masnou-Ridaura H, Cachero A, Vargas V, Gómez-Camarero J, Morillas-Ariño MJ, Molina-Pérez E, Miralpeix A, García-Villarreal L; Spanish Wilson Registry AEEH
Dig Liver Dis 2025 Feb;57(2):443-449. Epub 2024 Sep 24 doi: 10.1016/j.dld.2024.09.002. PMID: 39322449
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
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
Hofer H, Willheim-Polli C, Knoflach P, Gabriel C, Vogel W, Trauner M, Müller T, Ferenci P
J Hum Genet 2012 Sep;57(9):564-7. Epub 2012 Jul 5 doi: 10.1038/jhg.2012.65. PMID: 22763723

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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