Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up

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.