Coriorretinopatía pigmentaria por déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga (LCHAD): un caso clínico con seguimiento a largo plazo

Abstract

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.