{Reference Type}: Case Reports
{Title}: Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
{Author}: Rubaie KA;Raef H;Stone DU;Kozak I;
{Journal}: Middle East Afr J Ophthalmol
{Volume}: 26
{Issue}: 4
{Year}: Oct-Dec 2019
暂无{DOI}: 10.4103/meajo.MEAJO_94_19
{Abstract}: Congenital lipodystrophy syndromes are characterized by a paucity of adipose tissue and are associated with metabolic abnormalities including insulin resistance, diabetes mellitus, and severe hypertriglyceridemia. Herein, we present a case of proliferative diabetic retinopathy with an attack of anterior uveitis in a young female with congenital generalized lipodystrophy - Berardinelli-Seip syndrome. To the best of our knowledge, this is the first description of ocular involvement in Berardinelli-Seip syndrome.