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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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CASE REPORT
Year : 2019  |  Volume : 26  |  Issue : 4  |  Page : 250-252

Retinopathy and uveitis in congenital generalized lipodystrophy with hypertriglyceridemia and uncontrolled diabetes (Berardinelli–Seip Syndrome)


1 Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2 King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
3 Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; The Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USA
4 Vitreoretinal and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Moorfields Eye Hospitals, Abu Dhabi, United Arab Emirates

Correspondence Address:
Dr. Igor Kozak
Moorfields Eye Hospitals, Abu Dhabi

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/meajo.MEAJO_94_19

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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.


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