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Case Reports
. 2018 Dec;22(6):467-468.
doi: 10.1016/j.jaapos.2018.03.017. Epub 2018 Sep 1.

Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child

Jane H Lock  1 , Carolyn A Ross  1 , Maree Flaherty  2
Affiliations
Case Reports

Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child

Jane H Lock et al. J AAPOS. 2018 Dec.

Abstract

A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detected biallelic pathogenic sequence variants c.1069G>A and c.2034C>A in the LDLR gene. There is significant cardiovascular morbidity and mortality associated with FH, hence early diagnosis and treatment is imperative.

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