A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report.

ABSTRACT:

Introduction

Fish-eye disease (FED) is a rare autosomal recessive disorder caused by a partial deficiency of lecithin-cholesterol acyltransferase (LCAT) activity. It is characterized by progressive corneal opacification and dyslipidemia in the absence of systemic manifestations. We describe the clinical presentation, optical coherence tomography (OCT) imaging findings, and Scheimpflug-based corneal densitometry results in a patient with FED carrying both a pathogenic variant and a novel missense variant of the LCAT gene not reported in the current literature.

Case presentation

We present a rare case of a 25-year-old female with bilateral corneal opacities, reduced plasma high-density lipoprotein cholesterol (<5 mg/dL), and elevated low-density lipoprotein cholesterol

SUBMITTER: Sitto MM 

PROVIDER: S-EPMC12863738 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature