Posters

Fish eye syndrome: dyslipoproteinemic corneal dystrophy

Poster Details

First Author: I.Sian UK

Co Author(s):    L. De Benito Lopis                    

Abstract Details

Purpose:

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

Setting:

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

Methods:

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.

Results:

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).

Conclusions:

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.

Financial Disclosure:

None