Marfan Syndrome and Early-Onset Diabetic Retinopathy: A Case Report


avatar Y Park Ka 1 , avatar M Aydin Cristina 2 , avatar B Mazanderani Adel 2 , avatar M Johnson 2 , avatar L Chui 2 , avatar D Tildesley Hugh 3 , *

Department of Family Medicine, University of Toronto, Canada
Department of Medi-cine,University of British Columbia, Canada
Department of Medi-cine,University of British Columbia and Division of Endocrinology, St. Pauls Hospital, [email protected], Canada

how to cite: Ka Y, Cristina M, Adel B, Johnson M, Chui L, et al. Marfan Syndrome and Early-Onset Diabetic Retinopathy: A Case Report. Int J Endocrinol Metab.7(1): 41-45.


Diabetic retinopathy is characterized by the proliferation of fibrovascular tissue extending from the retina into the vi-treous cavity. MFS is an autosomal do-minant disorder of the elastic tissue. Al-though MFS clearly manifests with multiple ocular problems, there is no reported association between MFS and diabetic retinopathy. Reported here is the case of 32-year-old male with Marfan Syndrome (MFS) and type 2 diabetes mellitus (DM) presented with an accelerated onset of diabetic retinopathy. Our patient developed diabetic retinopathy only 4 years following the diagnosis of type 2 DM, de-spite excellent glucose control. We suggest that there may be a pathophysiological link between MFS and diabetes involving extracellular matrix components that accelerates and/or augments the retinopathic processes in MFS patients. Specifical-ly, we postulate that increased levels of matrix metalloproteinases (MMP) and transforming growth factor beta (TGF-β) in diabetic retinas fa-cilitate the proteolysis of an already weakened ocular connective tissue in MFS, ultimately lead-ing to early development of ophthalmologic ma-nifestations such as diabetic retinopathy.

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