Retinal Pigment Epithelial Defects and Vascular Anomalies in a Patient with Gilbert Syndrome
Han Kenneth D, Robillard Emily G MD, Peyman Gholam A MD, Fallon Michael B MD and Conway Mandi D MD*
ABSTRACT
Purpose: To report a unique case of retinal pigment epithelium (RPE) defects and venous abnormalities in an adolescent patient with Gilbert syndrome.
Methods: The patient underwent comprehensive ophthalmic evaluation including optical coherence tomography (OCT), fundus photographs, intravenous fluorescein angiography (IVFA).
Results: A 16-year-old male with Gilbert syndrome was referred for evaluation of unilateral retinal pigmentary changes discovered in the right eye during routine optometric eye examination. Bilateral IVFA demonstrated areas of temporal capillary non-perfusion in the far periphery slightly anterior to areas of RPE hypopigmentation in a curvilinear pattern. Atypical anastomosis of peripheral vasculature was noted in the left eye with venous remodeling. No new changes in visual acuity or retinal appearance were noted at three-month follow-up.
Conclusion: This constellation of retinal anomalies including venous abnormalities and areas of RPE hypopigmentation may be attributed to the transient indirect hyperbilirubinemia of Gilbert syndrome. Bilirubin is known to play a role in angiogenesis as well as having both anti- and pro- oxidant effects in neural tissue
