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[LCHADD-associated chorioretinopathy (case study)].

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Summary

This case study details pigmentary chorioretinopathy in a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). It highlights specific retinal changes and their impact on vision, emphasizing diagnostic imaging findings.

Keywords:
LCHADD-associated pigmentary chorioretinopathylong chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Metabolic Disorders

Background:

  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder.
  • Ocular manifestations of LCHADD, particularly retinopathy, are not well-documented.
  • Early diagnosis and understanding of LCHADD-associated retinopathy are crucial for patient management.

Purpose of the Study:

  • To present a clinical case of LCHADD-associated retinopathy in a pediatric patient.
  • To describe the specific clinical and imaging findings of this rare condition.
  • To correlate retinal structural changes with visual function and electrophysiological tests.

Main Methods:

  • Clinical examination of a 5-year-old female patient with suspected LCHADD.
  • Ophthalmic assessments including visual acuity, funduscopy, and optical coherence tomography (OCT).
  • Electrophysiological testing: electroretinography (ERG) and visual evoked potentials (VEP).

Main Results:

  • Localized retinal pigment epithelium (RPE) hyperplasia and chorioretinal atrophy were observed in the posterior pole and equatorial regions.
  • Left eye showed subretinal fibrosis in the fovea, leading to reduced visual acuity (0.03 sc) and decreased cone ERG activity.
  • Right eye maintained high visual acuity (0.8 sc) with normal VEP and ERG findings. OCT revealed characteristic structural changes.

Conclusions:

  • LCHADD can present with distinct pigmentary chorioretinopathy, characterized by RPE hyperplasia and atrophy.
  • Retinal structural abnormalities, particularly foveal involvement, significantly impact visual acuity and cone function.
  • OCT imaging is valuable for visualizing the specific retinal pathology in LCHADD-associated retinopathy.