Corneal arcus as the first presentation of hypercholesterolemia in children

Abstract Introduction Hyperlipoproteinemias are common conditions associated with premature coronary artery and peripheral vascular disease. Recognition of the ocular hallmarks of these diseases, such as xanthelasma and corneal arcus, can result in early intervention and reduce morbidity. Case presentation A seemingly healthy 7-year-old boy was referred to ophthalmology clinic because of corneal clouding in peripheries. He had a typical corneal arcus bilaterally. All other ophthalmologic examinations were normal. Systemic examination revealed scaphocephally and knees xanthomas. Biochemical analysis was normal except for lipid profile which was compatible with homozygote FH in index case, heterozygote FH in his dizygotic twin and mother, and familial combined hypercholesterolemia in father. CT angiography discovered wall thickening in descending aorta. Conclusion Visible signs of FH like corneal arcus and xanthoma are easy to observe in general physical examination and help to address the disease earlier and discover the other patients in the family.