Bilateral corneal clouding of lecithin cholesterol acyltransferase deficiency – A rare case report

Abstract

A 44-year-old female patient presented to our department with bilateral corneal opacity since childhood. History of similar complaints was elicited among her family members. Best-corrected visual acuity in both eyes was 6/9 with bilateral stromal corneal clouding extending from limbus to limbus, with no evidence of vascularization/deposits/scarring. Intraocular pressure and fundus examination were normal in both eyes. Further systemic evaluation showed increased triglycerides, low high-density lipoprotein, anemia, and proteinuria with elevated renal parameters. Renal biopsy showed secondary membranous nephropathy arising in a background of lecithin cholesterol acyltransferase (LCAT) deficiency. Severe visual impairment prompts keratoplasty in such patients. Bilateral stromal corneal clouding is important to detect potentially associated systemic diseases such as mucopolysaccharidosis/lipidosis, LCAT deficiency, fish-eye disease, and corneal dystrophy. The case is being reported to stress the importance of systemic evaluation and follow-up in a case of bilateral corneal clouding due to its varied systemic differentials.

Keywords

• corneal clouding
• lecithin cholesterol acyltransferase deficiency
• lipoprotein disorder