[LCHADD-associated chorioretinopathy (case study)]

This article presents a clinical case of pigmentary chorioretinopathy associated with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD-associated retinopathy) in a 5-year-old female patient. The condition manifested clinically as localized retinal pigment epithelium (RPE) hyperplasia in the foveal region, areas of localized chorioretinal atrophy with RPE hyperplasia in the posterior pole, as well as retroequatorial and equatorial regions. In the left eye, a localized area of subretinal fibrosis was observed in the fovea as a consequence of prior focal chorioretinitis, resulting in reduced visual acuity to 0.03 sc and decreased cone-mediated retinal electrical activity as evidenced by electroretinography. In the right eye, uncorrected visual acuity remained high at 0.8 sc; visual evoked potentials showed no abnormalities, and both full-field and multifocal electroretinography yielded values within normal limits. Optical coherence tomography (OCT) data are presented, illustrating specific structural retinal changes associated with LCHADD-associated retinopathy.