Dataset Information

Corneal thickness in the case of familial lecithin-cholesterol acyltransferase deficiency.

ABSTRACT:

Purpose

We report our findings of a patient with a definitive diagnosis of familial lecithin-cholesterol acyltransferase deficiency (FLD), whose corneal thickness was measured using swept-source optical coherence tomography (OCT) and who underwent an ophthalmologic therapeutic intervention.

Observations

The patient was a 78-year-old Japanese man diagnosed with FLD at the age of 52 years. This was his first ever visit to an ophthalmology clinic. Slit lamp microscopy revealed bilateral diffuse corneal opacities and cataracts, angioid streaks of the retina, and macular atrophy in the fundus. The central corneal thickness, measured with swept-source OCT, was within the normal range in both eyes. Deep lamellar keratoplasty, phacoemulsification, and intraocular lens insertion were performed simultaneously for the left eye. The right eye was treated only using deep lamellar keratoplasty.

Conclusions and importance

As seen in patients with fish-eye disease, the central corneal thickness in this patient with FLD was within the normal range. Since FLD is a rare disease, it is essential to collect and examine further data on corneal thickness.

SUBMITTER: Kinoshita S

PROVIDER: S-EPMC8473656 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Lecithin:cholesterol acyltransferase (LCAT) has been shown to play a role in the depletion of lipid oxidation products, but this has so far not been studied in humans. In this study, we investigated processes and parameters relevant to lipid oxidation in carriers of functional LCAT mutations.In 4 carriers of 2 mutant LCAT alleles, 63 heterozygotes, and 63 family controls, we measured activities of LCAT, paraoxonase 1, and platelet-activating factor-acetylhydrolase; levels of lysophosphatidylcholine molecular species, arachidonic and linoleic acids, and their oxidized derivatives; immunodetectable oxidized phospholipids on apolipoprotein (apo) B-containing and apo(a)-containing lipoproteins; IgM and IgG autoantibodies to malondialdehyde-low-density lipoprotein and IgG and IgM apoB-immune complexes; and the antioxidant capacity of high-density lipoprotein (HDL). In individuals with LCAT mutations, plasma LCAT activity, HDL cholesterol, apoA-I, arachidonic acid, and its oxidized derivatives, oxidized phospholipids on apo(a)-containing lipoproteins, HDL-associated platelet-activating factor-acetylhydrolase activity, and the antioxidative capacity of HDL were gene-dose-dependently decreased. Oxidized phospholipids on apoB-containing lipoproteins was increased in heterozygotes (17%; P<0.001) but not in carriers of 2 defective LCAT alleles.Carriers of LCAT mutations present with significant reductions in LCAT activity, HDL cholesterol, apoA-I, platelet-activating factor-acetylhydrolase activity, and antioxidative potential of HDL, but this is not associated with parameters of increased lipid peroxidation; we did not observe significant changes in the oxidation products of arachidonic acid and linoleic acid, immunoreactive oxidized phospholipids on apo(a)-containing lipoproteins, and IgM and IgG autoantibodies against malondialdehyde-low-density lipoprotein. These data indicate that plasma LCAT activity, HDL-associated platelet-activating factor-acetylhydrolase activity, and HDL cholesterol may not influence the levels of plasma lipid oxidation products.