A 30-year-old male came to the ophthalmology department with complaints of bilateral progressive vision loss. His uncorrected visual acuity was 6/12 in the right eye and 6/36 in the left eye. Ophthalmologic examination showed KF ring Fig. 1 and sunflower cataract Fig. 2 in both eyes. AS-OCT demonstrated KF ring Fig. 3. Corneal topography showed a characteristic keratoconus pattern Fig. 4.Figure 1: Clinical photograph of the right and left eyes showing Kayser–Fleischer (KF) ringsFigure 2: Clinical photograph of the right and left eyes showing sunflower cataractsFigure 3: Anterior segment OCT demonstrating KF rings in both eyesFigure 4: Corneal topography showing a characteristic keratoconus patternS Ceruloplasmin <7 mg/dl (22–58 mg/dL normal). 24-hour urine copper was 95.61 microgram/liter (2–80 microgram/L normal). MRI Brain showed hypodensity with blooming foci noted in bilateral globus pallidus Fig. 5, substantia nigra, and red nucleus Fig. 6, possibly due to mineral deposition. Based on clinical and laboratory findings, the patient was diagnosed with Wilson disease.Figure 5: MRI Brain showing hypodensity with blooming foci in bilateral globus pallidus due to mineral depositionFigure 6: MRI Brain showing hypodensity with blooming foci in substantia nigra and red nucleus due to mineral depositionDiscussion Wilson disease is an autosomal recessive disease caused by mutation in ATP7B gene which results in an excess copper deposition in the body.1 Keratoconus is a noninflammatory, bilateral, progressive corneal ectatic disorder characterized by cone-like steepening of the cornea, irregular astigmatism, stromal thinning, and vision loss.2 KF rings are golden brown rings that result from fine pigmented granular deposits of copper in the periphery of cornea. These are a characteristic feature of Wilson disease found in nearly all patients with neurologic manifestations and in 50% of patients with liver disease. Sunflower cataracts are another finding of Wilson disease and occur when copper deposits accumulate in the lens. Our patient had both these ocular manifestations. Conclusion We report a rare and well-documented case of Wilson disease associated with KF ring and keratoconus. Early recognition not only helps to monitor Wilson disease but also prevents the vison loss due to progressive keratoconus. Authors’ contributions All authors have contributed significantly to the research and manuscript writing. Each author has read and approved the final manuscript and agrees that it represents honest work. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.
Menon et al. (Thu,) studied this question.