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, and included choriocapillaris atrophy and severe disruption of the outer retinal layer. Case 2, a female born in 2012, presented with progressive shortsightedness and choroid atrophy documented with angio-OCT. Case 3, a male born in 2013, experienced recurrent hospitalizations due to metabolic decompensations and presented with mild myopia, thinning of the choroid layer, and slight pigment dispersion with macular sparing. CONCLUSION: The main ophthalmic symptoms of LCHAD deficiency were choroidal atrophy, disorganization of the outer retinal layer, and myopia. Choroidal atrophy and pigment dispersion were consistently the earliest signs of LCHAD-associated chorioretinopathy. Although the progression of chorioretinopathy in each case resulted from metabolic decompensation, one documented case revealed that not every metabolic crisis results in ophthalmological changes. Nonetheless, strict adherence to a low-fat, high-carbohydrate diet remains crucial to prevent gradual deterioration and vision loss.