Ocular complications of Tangier disease

Abstract

Tangier disease, or familial high-density lipoprotein deficiency, is an inherited disorder resulting in tissue deposition of excessive cholesterol esters. Although associated corneal clouding has been reported to produce little visual impairment, this patient with Tangier disease had corneal clouding, decreased corneal sensation, and cicatricial ectropion and experienced slowly progressive marked visual impairment. All ocular cases of Tangier disease are reviewed. Ectropion and incomplete eyelid closure may precede corneal clouding and should be recognized as signs associated with Tangier disease. The combination of exposure keratopathy and corneal infiltration can cause significant visual impairment.