Rubaie Khaled A, Raef Hussein, Stone Donald U, Kozak Igor
Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):250-252. doi: 10.4103/meajo.MEAJO_94_19. eCollection 2019 Oct-Dec.
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.
先天性脂肪营养不良综合征的特征是脂肪组织缺乏,并伴有包括胰岛素抵抗、糖尿病和严重高甘油三酯血症在内的代谢异常。在此,我们报告一例患有先天性全身性脂肪营养不良——贝拉尔迪内利-塞普综合征的年轻女性发生增殖性糖尿病视网膜病变并伴有前葡萄膜炎发作的病例。据我们所知,这是首次描述贝拉尔迪内利-塞普综合征的眼部受累情况。