Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up
1Servicio de Oftalmología, Complexo Hospitalario Universitario de Ferrol, A Coruña, Spain.
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Summary
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a severe genetic disorder causing pigmentary chorioretinopathy. Early diagnosis and monitoring are crucial for managing LCHAD
Area of Science:
- Medical Genetics
- Ophthalmology
- Metabolic Disorders
Background:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic disorder.
- LCHAD can lead to pigmentary chorioretinopathy, affecting the retinal pigment epithelium (RPE).
Observation:
- A 20-year-old female diagnosed with LCHAD via neonatal screening presented with RPE alterations since age 3.
- Fundus examination revealed a salt-and-pepper pattern and peripheral chorioretinal atrophy.
Findings:
- The patient remained visually asymptomatic and systemically stable for over 15 years.
- Regular monitoring using retinography, OCT, FAF, and ERG was essential for disease management.
Implications:
- This case underscores the critical role of early LCHAD diagnosis through neonatal screening.
- Proactive management and long-term follow-up are vital for preventing decompensation and improving patient outcomes.