Secondary Logo

Journal Logo

Institutional members access full text with Ovid®

Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease

Ustaoglu, Melih, MD*,†; Solmaz, Nilgun, MD; Baser, Burak, MD§; Kurtulgan, Hande Kucuk, MD§; Onder, Feyza, MD

doi: 10.1097/ICO.0000000000001804
Case Report
Buy
SDC

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.

*Glaucoma Research Center, Wills Eye Hospital, Philadelphia, PA;

Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital, Health Sciences University, Istanbul, Turkey;

Department of Ophthalmology, Haseki Training and Research Hospital, Health Sciences University, Istanbul, Turkey; and

§Department of Medical Genetics, Cumhuriyet University, Faculty of Medicine, Sivas, Turkey.

Correspondence: Melih Ustaoglu, MD, Glaucoma Research Center, Wills Eye Hospital, 840 Walnut St, Suite 1140, Wills Eye Hospital, Philadelphia, PA 19107 (e-mail: mustaoglu@willseye.org).

The authors have no funding or conflicts of interest to disclose.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Web site (www.corneajrnl.com).

Received August 08, 2018

Received in revised form September 13, 2018

Accepted September 18, 2018

Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.