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.
A case report.
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.
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: email@example.com).
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