Article Text

Download PDFPDF
Sunflower cataract: do not forget Wilson's disease
  1. Tomasz Litwin1,
  2. Ewa Langwińska-Wośko2,
  3. Karolina Dzieżyc1,
  4. Anna Członkowska1,3
  1. 1II Department of Neurology, Institute Psychiatry and Neurology, Warsaw, Poland
  2. 2Department of Ophthalmology, Medical University Warsaw, Warsaw, Poland
  3. 3Department of Experimental and Clinical Pharmacology, Medical University, Warsaw, Poland
  1. Correspondence to Dr Tomasz Litwin, Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, Warsaw 02-957, Poland; tomlit{at}medprakt.pl

Abstract

A 41-year-old man with liver cirrhosis of unknown aetiology for 6 years was admitted to our department to confirm the diagnosis of Wilson's disease. He consulted an ophthalmologist who suspected the presence of a sunflower cataract and Kayser–Fleischer ring. At admission, his liver function tests were modestly impaired (Child–Pugh C, 10 pts). Neurological examination was normal, but cognitive functions were mildly impaired. Based on the copper metabolism abnormalities and clinical manifestation, we diagnosed Wilson's disease (Ferenci score, 6 pts) and started treatment with d-penicillamine. Presenting the case we would like to emphasise the significance of the ophthalmological examination in Wilson's disease diagnosis.

  • WILSON-S DISEASE
  • KAYSER-FLEISCHER RING
  • SUNFLOWER CATARACT

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

A 41-year-old man with a 6-year history of liver cirrhosis of unknown cause was admitted with suspected Wilson's disease. Ophthalmological examination before admission had raised the possibility of Kayser–Fleischer rings and a sunflower cataract; further examination in hospital confirmed bilateral Kayser–Fleischer rings at the limbus of the cornea (figure 1A) with sunflower cataract in the lens capsule (figure 1B). Neurological examination was normal, but his cognitive function was mildly impaired, especially his concentration. His liver function was modestly impaired (Child–Pugh score C, 10 points). He showed low concentrations of serum ceruloplasmin (2.9 mg/dL, normal 25–45) and serum copper (14 μg/dL, normal 70–140), and increased daily urinary copper excretion (792 μg/24 h, normal 0–50). Partial gene sequencing identified c.3207C>A (p.H0169Q) on one allele of ATP7B. MR scan of the brain showed symmetrical hyperintense changes in T1 sequences of both globus pallidus formations, suggesting metal accumulation. We therefore diagnosed Wilson's disease and started treatment with d-penicillamine.

Figure 1

(A) Kayser–Fleischer ring in the right cornea (brown pigmented ring of the outer margin of the cornea—black arrow); (B) Sunflower cataract in the right eye (central disc with radiating petal-like spokes located under the anterior lens capsule—black arrow).

Wilson's disease (OMIM No.277900) is a genetic copper metabolism disorder resulting in copper accumulation in many tissues.1 Kayser–Fleischer rings, first described in 1922, result from copper deposition in Descemet's membrane.1 ,2 They are usually bilateral and appear as brown, green or yellow rings in the corneal periphery.2 Almost 100% of patients with Wilson's disease with neuropsychiatric presentation have Kayser–Fleischer rings at disease diagnosis, but only 50% of those with hepatic-only presentation and 20%–30% of presymptomatic patients.1 Though the Kayser–Fleischer ring is included in the international Wilson's disease scoring system, it requires very careful analysis, especially in those without neuropsychiatric presentation, because of occasional false-positive results in other disorders with increased serum copper concentrations (eg, jaundice, neoplastic disorders, oestrogen intake).1

Oloff and Siemerling (1922) recognised the sunflower cataract as pathognomonic of Wilson's disease, noting a similarity between the cataracts of Wilson's disease and those of patients with copper-containing intraocular foreign bodies.3 In each case, the cataract develops through copper deposits beneath the lens capsule (but without the visual acuity impairment of a classical cataract) and resembles a sunflower, with a central disc and radiating petal-like fronds visible to the naked eye. The prevalence of sunflower cataract in Wilson's disease is between 2% and 20%.1 ,2

The ophthalmological examination in suspected Wilson's disease should therefore not be limited to a search for Kayser–Fleischer rings. With such an excellent prognosis following early diagnosis and treatment, and such a devastating prognosis if it is missed, the correct interpretation of ophthalmological signs of Wilson's disease can be life changing.

References

Footnotes

  • Contributors TL: conception, manuscript preparation: writing of the first draft, review; KD: manuscript preparation and critical review; EL-W: ophthalmological examination, figures preparation, critical review of manuscript; AC: conception, manuscript preparation: critical review of manuscript.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Duncan Cole, Cardiff, UK.

Other content recommended for you