DR. RESHMA RAVIKANT SHAH

Dr. SHUBHRA AGARWAL

Abstract

Familial combined hyperlipidemia, which presents as hypercholesterolemia or hypertriglyceridemia, is the commonest form of genetic hyperlipidemia and is associated with premature coronary artery disease. This is a rare case report of a 45 days old neonate born out of a second-degree consanguineous marriage, with grade III lipemia retinalis secondary to familialcombined hyperlipidemia. Lipemia retinalis is a rare manifestation of both primary as well as secondary hyperlipidemia. It is one of the manifestations familial combined hyperlipidemia, which has a prevalence of 1–2% in general population. The Characteristic fundoscopic changes include retinal blood vessel discoloration, which ranges from salmon pink to creamish white, depending on the level of plasma triglycerides. Fundus changes become evident when the triglyceride levels exceed 2,500 mg/dl.