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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

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:

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

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Received August 08, 2018

Received in revised form September 13, 2018

Accepted September 18, 2018

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