Beyond the retina: Lipemia retinalis as a clue to Berardinelli-Seip congenital lipodystrophy syndrome

Abstract

In this rare and significant scenario, a 15-year-old female recently diagnosed with type 1 diabetes mellitus presented with moderate lipemia retinalis during routine diabetic retinopathy screening. Further investigations revealed elevated triglyceride and cholesterol levels, prompting the diagnosis of Berardinelli-Seip congenital lipodystrophy syndrome. This congenital disorder, characterized by severe insulin resistance and dyslipidemia due to near-total absence of adipose tissue, emphasizes the critical role of interdisciplinary care involving ophthalmologists, endocrinologists, and geneticists. Early recognition of ocular manifestations such as lipemia retinalis is crucial for timely diagnosis and tailored treatment strategies.