dc.contributor.author | Ustaoglu, Melih | |
dc.contributor.author | Solmaz, Nilgun | |
dc.contributor.author | Baser, Burak | |
dc.contributor.author | Kurtulgan, Hande Kucuk | |
dc.contributor.author | Onder, Feyza | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:37:10Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:37:10Z | |
dc.date.issued | 2019 | |
dc.identifier.issn | 0277-3740 | |
dc.identifier.issn | 1536-4798 | |
dc.identifier.uri | https://dx.doi.org/10.1097/ICO.0000000000001804 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/5957 | |
dc.description | WOS: 000464539300021 | en_US |
dc.description | PubMed ID: 30394912 | en_US |
dc.description.abstract | Purpose: 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | LIPPINCOTT WILLIAMS & WILKINS | en_US |
dc.relation.isversionof | 10.1097/ICO.0000000000001804 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | optical coherence tomography | en_US |
dc.subject | corneal clouding | en_US |
dc.subject | lecithin-cholesterol acyltransferase deficiency | en_US |
dc.subject | dyslipidemia | en_US |
dc.subject | dry eye disease | en_US |
dc.title | Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease | en_US |
dc.type | article | en_US |
dc.relation.journal | CORNEA | en_US |
dc.contributor.department | [Ustaoglu, Melih] Wills Eye Hosp & Res Inst, Glaucoma Res Ctr, 840 Walnut St,Suite 1140, Philadelphia, PA 19107 USA -- [Ustaoglu, Melih] Hlth Sci Univ, Sisli Hamidiye Etfal Training & Res Hosp, Dept Ophthalmol, Istanbul, Turkey -- [Solmaz, Nilgun -- Onder, Feyza] Hlth Sci Univ, Haseki Training & Res Hosp, Dept Ophthalmol, Istanbul, Turkey -- [Baser, Burak -- Kurtulgan, Hande Kucuk] Cumhuriyet Univ, Fac Med, Dept Med Genet, Sivas, Turkey | en_US |
dc.identifier.volume | 38 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.endpage | 383 | en_US |
dc.identifier.startpage | 379 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |