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

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.

Córnea ojo de pez en deficiencia de LCAT

“…La enfermedad de córnea ojo de pez es una rara manifestación de una enfermedad genética recesiva caracterizada por el depósito de lípidos intraestromales, debido al déficit parcial de la función de la enzima LCAT 7 . El diagnóstico definitivo se lleva a cabo con el estudio genético que confirma la mutación en el gen que codifica la enzima LCAT y el estudio al grupo familiar permite determinar que la herencia es autosómica recesiva 8 .…”

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency

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