Delhi Journal of Ophthalmology

A Case Report of Coincidental Finding of Kayser-Fleischer Ring in a Patient Seeking Treatment for Trauma

Senny Chapagain
Geta Eye Hospital, Kailali, Nepal

Corresponding Author:

Senny Chapagain, MD
Geta eye hospital, Dhangadi, Kailali, Nepal
Email: sharmasenny@gmail.com

Received: 20-JAN-2020

Accepted: 14-MAY-2020

Published Online: 20-DEC-2020

DOI:http://dx.doi.org/10.7869/djo.598

Abstract
A 30-year-old male presented to the out-patient department with history of trauma to the left eye with his hand. On examination, subconjunctival hemorrhage in left eye with bilateral Kayser-Fleischer ring and anterior sub capsular cataract was observed. There were no coexisting neurologic or hepatic symptoms at presentation. However, the patient had a history of jaundice one year back. We report an interesting case of Wilson disease presenting with ocular features in the absence of neurologic symptoms. Early detection and treatment of Wilson disease is possible in these cases with timely referral for systemic evaluation to prevent long-term complications.

Keywords :Autosomal Recessive, Copper Metabolism, Descemet Membrane, Wilson's Disease, Kayser- Fleischer Ring, Anterior Capsular Cataract

Introduction
Wilson disease (WD) is an inborn error of metabolism resulting in excess copper deposition in the liver, kidney, and other vital organs. It is an autosomal recessive disease.1 The hepatic and neurological symptoms are the usual presenting features.1 We report a case of WD presenting with ocular features in the absence of systemic findings diagnosed on incidental ocular examination for trauma to the eye.

Case Report
A 30 year old man presented to our OPD with complaints of redness in the left eye since 1 day. He gave history of trauma with his hand 1 day back. On examination, his best-corrected visual acuity was 20/20 in both eyes. Slit-lamp examinations showed congestion on left conjunctiva with sub conjunctival hemorrhage (Figure 1). There were characteristic copper-colored Kayser-Fleischer (K-F) rings, encircling the peripheral cornea, adjacent to the limbus in both eyes; the K-F ring was limited to the Descemet membrane (Figure 2). Bilateral yellowish-brown opacities in the anterior lens capsule arranged as radiating spokes from the centre giving the appearance of “sunflower” was observed (Figure3). Other ocular findings were normal.


Figure 1:  Subconjunctiva l hemorrhage in the left eye 


Figure 2:  Kayser-Fleischer ring was observed in peripheral cornea. 


Figure 3:  The Kayser-Fleischer ring and sunflower cataract was observed in the left eye 

Discussion
Wilsons disease is a disorder of copper metabolism which is inherited as an autosomal recessive trait. It is caused by the impaired function of P-type adenosine triphosphatase (ATPase), which is encoded by the ATP7B gene located on chromosome 13q14.2 Mutation of the ATP7B gene prevents the transport protein from functioning properly, due to which excess of copper accumulate in the liver, brain, kidneys, skeletal system and basal ganglia of the brain. The accumulated copper results in liver cirrhosis, renal tubular damage, and parkinsonism like defect of motor function. 
In a study by (quote the first author’s name here) the mean age of onset of symptoms was 13.5 years (range: 3-44 years) with the mean age at presentation of 15.6 years (range: 3-45 years) and the mean delay in diagnosis of 2.0 years (0.08-30 years).3
One-third cases of WD present with hepato-biliary symptoms, another third with neurologic symptoms, and thers with psychiatric and behavioral features.4 Similarly another study revealed that the neurologic deficits (69.1%) was the most common presenting feature followed by hepatic abnormalities (14.9%), hepato-neurologic deficits (3.5%), psychiatric symptoms (2.4%), and osseo-muscular dysfunction (2.1%); only 5.3% were presymptomatic.5 K-F rings are observed in association with systemic involvement of WD. This study also demonstrated that K-F ring was seen in 100% of the cases with neurologic involvement, 86%; of the cases with hepatic involvements, and in 59% of the presymptomatic patients.
In our case, the patient presented following ocular trauma. KF ring and sunflower cataract was diagnosed coincidently in the absnece of neurologic or hepatic abnormalities. K-F ring and sunflower cataract are indicators of advanced stage of the disease and patients with K-F rings generally have neurologic manifestations. Sullivan et al6 and Goel et al have previously reported similar cases of WD presenting with ocular features.
K-F ring and sunflower cataract usually develops as a result of excess copper accumulation in these tissues. It is seen in cases of WD but can also be seen in other cases like cholestasis, primary biliary cirrhosis, and cryptogenic cirrhosis.8 Serum ceruloplasmin and bilirubin levels can help to arrive at an appropriate diagnoses.9,10
In conclusion, patients with WD can present with ocular symptoms. Early diagnosis of asymptomatic WD with only ocular manifestations and early referral to physician can aid in proper diagnosis and initiation of chelation and zinc therapy preventing the possible long term systemic complications.

References
  1. Sternlieb Perspectives on Wilson's disease Hepatology, 12 (1990), pp. 1234-1239
  2. S. Vrabelova, O. Letocha, M. Borsky, L. Kozak. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease Mol Genet Metab, 86 (2005), pp. 277-285
  3. Di Stefano V, Lionetti E, Rotolo N, La Rosa M, Leonardi S. Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: Description of a pediatric case and literature review. Hepat Mon. 12 (2012) 6233
  4. M. Akil, J.A. Schwartz, D. Dutchak, V. Yuzbasiyan-Gurkan, G.J. BrewerThe psychiatric presentations of Wilson's disease J Neuropsychiatry Clin Neurosci, 3 (1991), pp. 377-382
  5. A.B. Taly, S. Meenakshi-Sundaram, S. Sinha, H.S. Swamy, G.R. ArunodayaWilson disease: description of 282 patients evaluated over 3 decadesMedicine (Baltimore), 86 (2007), pp. 112-121
  6. C. A. Sullivan, A. Chopdar, G.A. Shun-ShinDense Kayser-Fleischer ring in asymptomatic Wilson's disease (hepatolenticular degeneration) Br J Ophthalmol, 86 (2002), p. 114
  7. D.O. Wiebers, R.W. Hollenhorst, N.P. GoldsteinThe ophthalmologic manifestations of Wilson's disease Mayo Clin Proc, 52 (1977), pp. 409-416
  8. J.C. SuvarnaKayser-Fleischer ringJ Postgrad Med, 54 (2008), pp. 238-240
  9. M. Fenu, M. Liggi, E. Demelia, O. Sorbello, A. Civolani, L. DemeliaKayser-Fleischer ring in Wilson's disease: a cohort study Eur J Intern Med, 23 (2012), pp. e150-e156
  10. B. Esmaeli, M.A. Burnstine, C.L. Martonyi, A. Sugar, V. Johnson, G.J. BrewerRegression of Kayser-Fleischer rings during oral zinc therapy: correlation with systemic manifestations of Wilson's disease Cornea, 15 (1996), pp. 582-588

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Chapagain SA Case Report of Coincidental Finding of Kayser-Fleischer Ring in a Patient Seeking Treatment for Trauma.DJO 2020;31:80-81

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Chapagain SA Case Report of Coincidental Finding of Kayser-Fleischer Ring in a Patient Seeking Treatment for Trauma.DJO [serial online] 2020[cited 2021 Jan 26];31:80-81. Available from: http://www.djo.org.in/articles/31/2/A-Case-Report-of-Coincidental-Finding-of-Kayser-Fleischer-Ring.html