Ocular Manifestations in Familial Lecithin: Cholesterol Acyltransferase Deficiency

Abstract

Familial LCAT-deficiency may give rise to both corneal and fundus changes. The corneal changes are of major diagnostic importance, since they occur as an early sign before other symptoms of the disorder have developed; they have a characteristic appearance, making the clinical diagnosis fairly easy, and they are present in all patients with this disorder. They cause only a minor and negligible loss of visual function. Fundus changes have been observed in a few patients only. They constitute probably a late complication, caused by deposits of lipid material in nervous tissue and vessel walls at the optic disc, with an ultimate loss of visual function in selected eyes.

Key Words:

• Cholesterol
• corneal deposits
• dyslipoproteinemia
• familial LCAT-deficiency
• optic atrophy
• papilledema
• retinal hemorrhage