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Fish eye syndrome: dyslipoproteinemic corneal dystrophy

Poster Details

First Author: I.Sian UK

Co Author(s):    L. De Benito Lopis                    

Abstract Details


To describe a case of a 32 year old male with uncommon bilateral peripheral corneal deposits.


Hospital name: Moorfields Eye Hospital Corneal & External Eye Disease Service - London.


The patient reported a history of bilateral peripheral corneal changes first noted in childhood. He also had a history of childhood obesity which improved after changing his diet. Clinically, there was presence of bilateral pseudo - gerotoxon, with normal ocular examination otherwise. His visual acuity was 6/6 right eye, 6/9 left eye. Lipid profile tests and genetic testing were conducted.


The fasting lipid profile results showed normal total cholesterol (2.7mg/dl, normal range 2.3 – 4.9 mg/dl), but with very low HDL-cholesterol (<0.1 mg/dl, normal range 0.9 – 1.5), and elevated triglycerides (3.3 mg/dl, normal range 0 – 2.2 mg/dl). The history, lipid profile and clinical signs suggested the diagnosis of Fish-eye syndrome. The patient has been sent for Lecithin – cholesterol acyltransferase (LCAT) deficiency testing to confirm the diagnosis (genetic testing for Thr – ILe mutation at codon 123).


Fish eye disease is an autosomal recessive disease where the LCAT function is only partially impaired: the enzyme is unable to esterify cholesterol in HDL particles but retains its activity on cholesterol LDL and VLDL, leading to very low plasmatic levels of HDL-cholesterol. The corneal manifestations result from diffuse opacification peripherally, which in severe cases may require a corneal transplant. Patients do not develop the other systemic complications (renal insufficiency, atherosclerosis and ischemic heart disease) usually seen in familial LCAT deficiency, where the LCAT function is fully impaired.

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