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Year : 2013  |  Volume : 3  |  Issue : 4  |  Page : 173-175

Ocular manifestations as the initial presentations of Wilson disease

1 Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan
2 Department of Ophthalmology, Buddhist Tzu Chi General Hospital; Department of Ophthalmology and Visual Science, Tzu Chi University, Hualien, Taiwan

Date of Web Publication20-Nov-2013

Correspondence Address:
Rong-Kung Tsai
Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Number 707, Section 3, Chung Yang Road, Hualien 970
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Source of Support: None, Conflict of Interest: None

DOI: 10.1016/j.tjo.2013.03.005

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A 19-year-old woman presented with Kayser-Fleischer ring in her corneas and sunflower cataracts in both eyes. There were no coexisting neurologic or hepatic symptoms, both brain magnetic resonance imaging (MRI) and abdominal echo showed minimal changes. Serum copper concentration (Cu) and ceruloplasmin were abnormal, and 24-hour urine collection showed abnormally high levels of copper (348.0 μg/day). A diagnosis of Wilson disease was made. We report the interesting case of rare manifestations of Wilson disease; initially with ocular presentations without neurologic symptoms. Early detection and treatment of Wilson disease is possible in patients with only ocular manifestations, and can prevent a catastrophic sequel.

Keywords: Kayser–Fleischer ring, sunflower cataract, Wilson disease

How to cite this article:
Lin JL, He MS, Tsai RK. Ocular manifestations as the initial presentations of Wilson disease. Taiwan J Ophthalmol 2013;3:173-5

How to cite this URL:
Lin JL, He MS, Tsai RK. Ocular manifestations as the initial presentations of Wilson disease. Taiwan J Ophthalmol [serial online] 2013 [cited 2023 Mar 28];3:173-5. Available from: https://www.e-tjo.org/text.asp?2013/3/4/173/203917

  1. Introduction Top

Wilson disease (WD) is an autosomal recessive inborn error of metabolism that results in excess copper deposition in the liver, kidney, and other vital organs.[1] The characteristic symptoms start from hepatic and neurologic diseases, and then extend over the entire body.[1] We report a case with ocular manifestations as the initial presentation of WD.

  2. Case report Top

A 19-year-old woman without systemic disease presented to our clinic with complaints of congested, red eyes and itching in both eyes for 1 month. Her vision was unaffected. According to past and familial history, glomerulonephritis and proteinuria were diagnosed 10 years ago, and were resolved during the elementary school period. Her mother had lupus nephritis, and had proceeded to the end stage of renal disease. The family history of Wilson disease was negative.

On ophthalmic examination, her best-corrected visual acuity was 20/20 in the right eye and 20/15 in the left eye. Slit-lamp examinations showed mild congestion on bilateral conjunctivas. There were characteristic copper-colored Kayser-Fleischer (K-F) rings, encircling with the peripheral cornea, adjacent to the limbus in both eyes; the K-F ring was limited to the Descemet membrane [Figure 1]. The anterior chamber was deep and clear. Bilateral yellowish-brown opacities in the subcapsular cortex of the lens and pupillary zone with petal-like spokes were also shown, which was characteristic of sunflower cataract [Figure 1]. Other corneal examinations showed increased peripheral corneal thickness with the endothelial cell count within normal range (2966 cells/mm2 in the right eye and 3457 cells/mm2 in the left eye) [Figure 2].
Figure 1: (A) Obvious Kayser-Fleischer ring was observed in both eyes. (B) The deposition of Kayser-Fleischer ring pigmentation was in the layer of the Descemet membrane. (C) A sunflower pattern of cataract was observed in the left eye.

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Figure 2: Corneal topography demonstrated that peripheral cornea thickness increased in both eyes (Pentacam HR, Oculus, Germany).

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On systemic survey, an abdominal ultrasonography revealed mild parenchymal liver disease with otherwise normal findings. Renal ultrasonography showed bilateral parenchymal renal diseases of relatively small size in the right kidney. Laboratory studies included a hemogram, liver function, renal function, and copper profile; these were within normal limits with the exception of the serum copper concentration (Cu) and ceruloplasmin were below normal range (Cu 436 ppb and ceruloplasmin 8 mg/dL, respectively; normal Cu 700–1500 ppb, ceruloplasmin 17–31 mg/dL). A 24-hour urine collection showed an abnormally high level of copper (348.0 μg/day; normal <60 μg/day). Brain magnetic resonance imaging (MRI) revealed mild hyperintensity in the bilateral basal ganglion on the T2-weighted image [Figure 3].
Figure 3: A few areas of mild hyperintensity in the bilateral basal ganglion were found on the T2-weighted MRI (arrow).

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According to the patient demographics, clinical manifestations, MRI, and laboratory findings including serum ceruloplasmin, serum copper, and 24-hour urine copper collection, the patient matched the diagnostic criteria of Wilson disease, and she was referred to an endocrinologist for D-penicillamine therapy.[1] After 18 months of D-penicillamine treatment, ceruloplasmin was still low (<7.5 mg/dL), and other liver enzymes were within normal range [aspartate aminotransferase (AST) 18 and alanine aminotransferase (ALT) 29IU/L, respectively; normal AST 15–37 and ALT 3–30]. The copper amount reduced to 79.3 μg in 24-hour urine collection. The K-F ring persisted, but there was no newly developed neurologic symptom, and the abdominal echo showed stable parenchymal disease without exacerbation.

  3. Discussion Top

WD is an autosomal recessive inherited disorder of copper metabolism, caused by impaired function of P-type adenosine tri-phosphatase (ATPase), encoded by the ATP7B gene located on chromosome 13q14.[2] The ATP7B gene makes a protein important for copper transport and the elimination of excess copper from the body. Mutation of this gene prevents the transport protein from functioning properly, allowing copper to accumulate in the liver, brain, kidneys, and skeletal system. This defect results in excess copper deposition in the liver, kidneys, and basal ganglia of the brain, and leading to liver cirrhosis, renal tubular damage, and a parkinsonian-like defect of motor function.[1] At least two positive signs in three of the following descriptions match the Sternlieb diagnostic criteria: low serum ceruloplasmin (<22 mg/dL), neurologic symptoms that cannot be attributable to any known cause, and K-F ring.[1]

The presentation in this young woman indicates that the initial ocular manifestation of WD can occur in patients without severe systemic sequel of WD. She had a very dense K-F ring, but no neurologic or hepatic abnormalities. Despite the abnormal copper metabolism, she remained neurologically asymptomatic and with normal liver function. WD has been evidenced to cause the development of K-F ring and sunflower cataract; these disturbances manifested mainly in the advanced stages of the disease. Virtually all patients with K-F rings have neurologic manifestations.[3]

In a report of WD, one-third of patients present with liver disease, another third with neurologic manifestations, and others with psychiatric and behavioral manifestations.[4] In another study, 282 WD patients were reviewed, which revealed that the most involved dysfunction was neurologic deficits (69.1%), followed by hepatic abnormalities (14.9%), hepatoneurologic deficits (3.5%), pure psychiatric symptoms (2.4%), and osseomuscular dysfunction (2.1%); only 5.3% were presymptomatic.[5] K-F rings are observed in association with systemic involvement of WD. This study further demonstrated that K-F rings presented in neurologic involvement at 100%; in hepatic involvements, 86%; and in presymptomatic patients, 59%. That is, K-F ring was present in a lower percentage of the presymptomatic group than the neurologic and/or hepatic involvements in patients with WD.

K-F ring is uncommon as one of the initial manifestations of WD. Sullivan et al[6] have reported a patient with K-F ring who was otherwise healthy. Sunflower cataracts are relatively rare in patients with WD, occurring in only 17% in one study.[7] Taly et al[5] reported an asymptomatic K-F ring prevalence of 3% in all WD patients. K-F ring and sunflower cataract usually developed as a result of excess copper accumulation in these tissues. Interestingly, the lack of a typical clinical presentation of WD, a nearly normal morphologic picture of the liver on ultrasonography, and only mild hyperintensity in bilateral basal ganglion on the T2-weighted image on brain MRI in our patient indicated that the symptoms of WD appeared at the initial stages. Nevertheless, low plasma levels of ceruloplasmin, increased plasma levels of copper, and an increased urine excretion of copper confirm the diagnosis of WD.

Other causes of K-F ring other than WD include cholestasis, primary biliary cirrhosis, and cryptogenic cirrhosis.[8] Serum bilirubin level can exclude these diagnoses. Anticopper therapy induces KF regression in some patients; however, one study showed that no significant correlations were observed between KF regression and clinical neurologic improvement or between KF modifications and clinical hepatic improvement.[9],[10]

In conclusion, adolescent patients with WD could present with ocular symptoms initially. Early diagnosis of asymptomatic WD with only ocular manifestations is possibly made by ophthalmologists, and early initiation of chelation and zinc therapy can prevent catastrophic complications.

  References Top

Sternlieb I. Perspectives on Wilson’s disease. Hepatology 1990;12:1234–9.  Back to cited text no. 1
Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis ofthe ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 2005;86:277–85.  Back to cited text no. 2
Finelli PF. Kayser-Fleischer ring: hepatolenticular degeneration (Wilson’s disease). Neurology 1995;45:1261–2.  Back to cited text no. 3
Akil M, Schwartz JA, Dutchak D, Yuzbasiyan-Gurkan V, Brewer GJ. The psychiatric presentations of Wilson’s disease. J Neuropsychiatry Clin Neurosci 1991;3:377–82.  Back to cited text no. 4
Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007;86:112–21.  Back to cited text no. 5
Sullivan CA, Chopdar A, Shun-Shin GA. Dense Kayser–Fleischer ring in asymptomatic Wilson’s disease (hepatolenticular degeneration). Br J Oph-thalmol 2002;86:114.  Back to cited text no. 6
Wiebers DO, Hollenhorst RW, Goldstein NP. The ophthalmologic manifestations of Wilson’s disease. Mayo Clin Proc 1977;52:409–16.  Back to cited text no. 7
Suvarna JC. Kayser-Fleischer ring. J Postgrad Med 2008;54:238–40.  Back to cited text no. 8
Fenu M, Liggi M, Demelia E, Sorbello O, Civolani A, Demelia L. Kayser-Fleischer ring in Wilson’s disease: a cohort study. Eur J Intern Med 2012;23:e150–6.  Back to cited text no. 9
Esmaeli B, Burnstine MA, Martonyi CL, Sugar A, Johnson V, Brewer GJ. Regression of Kayser-Fleischer rings during oral zinc therapy: correlation with systemic manifestations of Wilson’s disease. Cornea 1996;15:582–8.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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1. Introduction
2. Case report
3. Discussion
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