Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases.

ABSTRACT:

Introduction

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, typically inherited as a recessive trait, is a genetic condition predominantly observed in Central and Eastern Europe, with birth prevalence in Poland amounting to 1/118,336. In most European countries, e.g., in Poland since 2014, this disorder is included in newborn screening.

Case presentation

This paper presents the ophthalmic symptoms of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in three pediatric patients. Visual acuity testing, fundus photography, and optical coherence tomography (OCT) were performed and data were collected over several years (2017-2022). In case 1, a female born in 2010, exhibited abnormalities in the central part of the posterior pole, mainly in the macula

SUBMITTER: Lange N 

PROVIDER: S-EPMC11003731 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature