Ocular findings in patients with homozygous familial hypercholesterolaemia
Date
2017
Authors
Goberdhan, Adisha
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Abstract
Homozygous familial hypercholesterolaemia is a fatal disease if untreated and has a high prevalence of premature coronary artery disease. Ocular findings may help with earlier identification and coronary artery disease risk stratification.
Objectives: The primary objective was to determine ocular findings in patients with homozygous familial hypercholesterolaemia. The secondary objective was to correlate ocular findings with clinical and biochemical data.
Design and Method: A cross-sectional study was conducted in 2011. Thirty patients were recruited from the Lipid Clinic at Charlotte Maxeke Johannesburg Academic Hospital.
Results: Xanthelasma palpebrarum, corneal arcus, retinal arteriosclerosis and visual field defects were detected. Xanthelasma palpebrarum and corneal arcus were common in patients with overt coronary artery disease.
Conclusion: In addition to well-known ocular features of hyperlipidaemia, i.e. xanthelasma palpebrarum, corneal arcus and retinal arteriosclerosis, we detected visual field defects. The assessment of xanthelasma palpebrarum and corneal arcus may help to prognosticate coronary artery disease risk.
Description
A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in partial fulfilment of the requirements for the degree of Master of Medicine in Ophthalmology
Johannesburg, 2017.
Keywords
Ocular