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

Jane H Lock; Carolyn A Ross; Maree Flaherty

doi:10.1016/j.jaapos.2018.03.017

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

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

Authors

Jane H Lock¹, Carolyn A Ross¹, Maree Flaherty²

Affiliations

¹ Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, Australia.
² Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, Australia. Electronic address: flaherty@childrenseyecentre.com.au.

PMID: 30179711
DOI: 10.1016/j.jaapos.2018.03.017

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.

Publication types

Case Reports

MeSH terms

Adult
Arcus Senilis / diagnosis
Arcus Senilis / etiology*
Arcus Senilis / genetics
Child, Preschool
Cholesterol, LDL / blood
Cornea / pathology*
Female
Follow-Up Studies
Genetic Testing
Homozygote
Humans
Hyperlipoproteinemia Type II / blood
Hyperlipoproteinemia Type II / complications*
Hyperlipoproteinemia Type II / genetics
Male
Phenotype

Substances

Cholesterol, LDL