Journal of Pediatric Ophthalmology and Strabismus

Whats Your Diagnosis 

The Golden-Eyed Child

Swati Tyagi, MBBS; Kritika Chopra, MBBS, DNB

Abstract

An 11-year-old boy (Figure 1) was referred from the department of pediatrics for ophthalmic assessment. His father said that his son had been experiencing inability to speak properly, difficulty in swallowing, trembling of hands, loss of appetite, decreased hand–eye coordination, and occasional febrile episodes for the past 6 months. On ophthalmic examination, his visual acuity was 6/6 in both eyes. Vertical ocular movements were limited; however, horizontal ocular movements were normal. Convergence and pupillary reflex were normal. Anterior segment examination by slit-lamp biomicroscopy revealed a brownish-yellow ring in the corneal periphery, present 360 degrees anterior to Schwalbe's line along the limbal margin. These findings were confirmed on gonioscopy. He had bilateral central disc-like lenticular opacities with radiating folds toward the periphery, suggestive of a sunflower-shaped anterior capsular cataract. Fundus examination of both eyes was normal. The boy was one of three children from a non-consanguineous marriage; no similar complaints were reported in the family members. Laboratory investigations revealed elevated transaminase levels in blood and increased urinary excretion of copper. Additionally, computed tomography of his brain revealed basal ganglia calcification. The boy's systemic condition improved after starting d-penicillamine orally.

For the correct answer, see page 153.

The answer for What's Your Diagnosis? is Kayser-Fleischner ring in Wilson's disease.…

An 11-year-old boy (Figure 1) was referred from the department of pediatrics for ophthalmic assessment. His father said that his son had been experiencing inability to speak properly, difficulty in swallowing, trembling of hands, loss of appetite, decreased hand–eye coordination, and occasional febrile episodes for the past 6 months. On ophthalmic examination, his visual acuity was 6/6 in both eyes. Vertical ocular movements were limited; however, horizontal ocular movements were normal. Convergence and pupillary reflex were normal. Anterior segment examination by slit-lamp biomicroscopy revealed a brownish-yellow ring in the corneal periphery, present 360 degrees anterior to Schwalbe's line along the limbal margin. These findings were confirmed on gonioscopy. He had bilateral central disc-like lenticular opacities with radiating folds toward the periphery, suggestive of a sunflower-shaped anterior capsular cataract. Fundus examination of both eyes was normal. The boy was one of three children from a non-consanguineous marriage; no similar complaints were reported in the family members. Laboratory investigations revealed elevated transaminase levels in blood and increased urinary excretion of copper. Additionally, computed tomography of his brain revealed basal ganglia calcification. The boy's systemic condition improved after starting d-penicillamine orally.

What's Your Diagnosis?

For the correct answer, see page 153.

The answer for What's Your Diagnosis? is Kayser-Fleischner ring in Wilson's disease.

References

  1. Goel S, Sahay P, Maharana PK, Titiyal JS. Ocular manifestations of Wilson's disease. BMJ Case Rep. 2019;12(3):e229662. doi:10.1136/bcr-2019-229662 [CrossRef]
  2. Cairns JE, Williams HP, Walshe JM. “Sunflower cataract” in Wilson's disease. Br Med J. 1969;3(5662):95–96. doi:10.1136/bmj.3.5662.95 [CrossRef]
  3. Saiduzzafar H, Ansari Z, Kumar M. Wilson's disease with special reference to ocular manifestations (a case report). Indian J Ophthalmol. 1978;26:37–39.
Authors

From the Department of Ophthalmology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Swati Tyagi, MBBS, Department of Ophthalmology, Vardhman Mahavir Medical College and Safdarjung Hospital, F4 HUDCO Place, Type V1, Andrews Ganj Ext, New Delhi, Delhi 110049, India. E-mail: swatityagi29@gmail.com

10.3928/01913913-20200326-03

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