Improved visual function with dietary intervention in a child with lipemia retinalis

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Lipoprotein lipase deficiency (LPLD) is a rare genetic disorder affecting lipid metabolism.
• It can lead to severe hypertriglyceridemia and complications like lipemia retinalis.

Observation:

• A 4.8-year-old female presented with grade 3 lipemia retinalis.
• She also exhibited an abnormal electroretinogram and bilateral decreased visual acuity.

Findings:

• Strict dietary intervention was implemented as a treatment.
• This led to the complete reversal of lipemia retinalis.
• Electroretinogram results normalized, and visual acuity improved in both eyes.

Implications:

• Dietary management is crucial for managing LPLD and its ocular manifestations.
• Early diagnosis and intervention can prevent irreversible vision loss.
• This case highlights the importance of metabolic screening in pediatric ophthalmology.