Fish‐eye disease: Ocular characteristics in anterior‐segment optical coherence tomography of a patient with lecithin‐cholesterol acyltransferase deficiency

Abstract

Purpose: We describe a case of Fish‐Eye Disease (FED) in which the clinical features and visual function were investigated using anterior‐segment optical coherence tomography (AS‐OCT). Methods: A 38‐year‐old Spanish man with a known history of dyslipidemia came to our Hospital referring mild blurred vision and whitening of both eyes. Visual acuity was 1.00 (decimal). Slit‐lamp examination showed bilateral, peripheral yellowish‐white corneal opacities, causing corneal clouding. An AS‐OCT was then performed, showing homogeneously hyper‐reflective corneal stroma. On systemic examination, the patient had low plasma high‐density lipoprotein cholesterol levels. Results: Both slit‐lamp examination and AS‐OCT imaging revealed a corneal opacification compatible with FED, a clinical feature secondary to a lecithin‐cholesterol acyltransferase (LCAT) deficiency. The patient was sent to genetic counselling to study the mutation, which was later found to be positive for LCAT gene. Conclusions: Although it is not a common genetic disorder, FED should be included in the differential diagnosis of corneal clouding. The findings from this case suggest that a complete eye examination, both with slit‐lamp and AS‐OCT, can be useful for an early FED diagnosis despite good visual acuity.