title: Lipemia retinalis: case report and review of the literature.
abstract: We report the case of a 12-week-old boy presenting with increased cholesterol and triglyceride levels. Examination revealed lipemia retinalis. Genetic evaluation demonstrated lipoprotein lipase deficiency. The patient was treated with dietary restrictions, which resulted in rapid clinical improvement.
authors: Department of Ophthalmology, Rabin Medical Center, Petah Tiqwa, Israel, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. alonzahavi@gmail.com
authors: Alon
authors: A
authors: Zahavi
authors: Moshe
authors: M
authors: Snir
authors: Yonina Ron
authors: YR
authors: Kella
mesh_terms: D002784:Cholesterol / Q000097:blood; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018752:Diet, Fat-Restricted; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D007223:Infant; D008071:Lipoprotein Lipase / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D012164:Retinal Diseases / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D014280:Triglycerides / Q000097:blood
chemical_list: D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase