Biallelic mutations in the LCAT gene that reduce LCAT secretion or function result in LCAT deficiency, which manifests as two related but different syndromes: FLD and fish-eye disease (FED) (Orphanet: an online database of rare diseases and orphan drugs; http://www.orpha.net; accession numbers: ORPHA: 79293 and ORPHA: 79292). This evidence concerns the gene LCAT and LCAT deficiency.