Retinopathy and uveitis in congenital generalized lipodystrophy with hypertriglyceridemia and uncontrolled diabetes (Berardinelli & #8211;Seip Syndrome)

Khaled A Rubaie, Hussein Raef, Donald U Stone, Igor KozakMiddle East African Journal of Ophthalmology 2019 26(4):250-252
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.

Source: Middle East African Journal of Ophthalmology - January 28, 2020 Category: Opthalmology Authors: Khaled A Rubaie Hussein Raef Donald U Stone Igor Kozak Source Type: research