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

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...

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Bibliographic Details
Published in:Acta ophthalmologica (Oxford, England) England), 2022-12, Vol.100 (S275), p.n/a
Main Authors: El Bakkali, Ismael Bakkali, Arias, Pablo Cisneros, Rivasés, Guillermo Pérez, Moscarda, Eva Josefina Núñez, Rivas, Marta Orejudo, Fernández, Miguel Castillo, Martínez, Marta Suñer, Puyuelo, Francisco Javier Ascaso, Sayas, María Ángeles Del Buey
Format: Article
Language:English
Subjects:
Acuity
Acyltransferase
Cholesterol
Cornea
Differential diagnosis
Dyslipidemia
Eye diseases
Eye examinations
Genetic counseling
Genetic disorders
Lecithin
Patients
Stroma
Tomography
Visual acuity
Visual perception
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Summary: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.
ISSN:1755-375X
1755-3768
DOI:10.1111/j.1755-3768.2022.0758