Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a...

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder of lipid metabolism characterized by corneal opacification, hemolytic anemia, and chronic kidney disease. We describe the ophthalmic, systemic, and genetic findings of a patient with LCAT deficiency and report a novel frameshift mutation in the LCAT gene.

Ophthalmic findings may represent the first clinical sign and guide the diagnosis. A 50-year-old white male with end-stage renal disease on hemodialysis and a history of recurrent hemolytic anemia was referred for bilateral corneal opacities. Despite diffuse opacification involving all corneal layers, his best corrected visual acuity remained 20/20 in both eyes with normal color vision, although contrast sensitivity was reduced. Laboratory testing revealed normocytic, normochromic anemia, low HDL cholesterol, and reduced apolipoprotein A levels. Genetic analysis identified compound heterozygosity in the LCAT gene: a novel frameshift variant c.580_598del p.(Ala194Serfs*64), classified as likely pathogenic, and the previously described missense variant c.619G>A p.(Gly207Ser), also classified as likely pathogenic.

This case highlights the importance of considering metabolic disorders in the differential diagnosis of bilateral corneal opacities and expands the genetic spectrum of LCAT deficiency by reporting a novel frameshift mutation.