Ustaoglu, MelihSolmaz, NilgunBaser, BurakKurtulgan, Hande KucukOnder, Feyza2019-07-272019-07-282019-07-272019-07-2820190277-37401536-4798https://dx.doi.org/10.1097/ICO.0000000000001804https://hdl.handle.net/20.500.12418/5957Purpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase (LCAT) gene. Methods: A case report. Results: A 46-year-old woman and 63-year-old man presented with blurred vision, burning sensation, and whitening of both eyes for 2 and 3 years, respectively. Ophthalmologic examination revealed slightly decreased visual acuity, yellowish-white diffuse corneal opacities causing corneal clouding, and dry eye disease bilaterally in both patients. AS-OCT imaging demonstrated diffuse hyperreflective corneal opacities predominantly located in the anterior stroma. On systemic examination, both patients had very low plasma high-density lipoprotein cholesterol levels. However, they did not have any systemic associations with familial LCAT deficiency or Tangier disease, which are differential diagnoses for corneal clouding and low plasma high-density lipoprotein cholesterol. Both patients were diagnosed with FED based on clinical findings. Furthermore, genetic analysis, in which novel variants of c.86A>G (p.Asn29Ser) in the first exon and c.1052A>G (p.Tyr351Cys) in the sixth exon on the LCAT gene were detected, confirmed the diagnosis. Conclusions: Although it is a rare genetic disorder, FED should be considered in the differential diagnosis of corneal clouding. Corneal lipid deposits, visible on AS-OCT are suggestive of FED, and genetic analysis can be used to confirm the clinical diagnosis. Finally, there may be a relationship between dry eye disease and LCAT enzyme deficiency disorders, which should be investigated in further studies.en10.1097/ICO.0000000000001804info:eu-repo/semantics/closedAccessoptical coherence tomographycorneal cloudinglecithin-cholesterol acyltransferase deficiencydyslipidemiadry eye diseaseArticle383383379303949122-s2.0-85061118941Q1WOS:000464539300021Q2