G K Broadhead1,2,3, J R Grigg1, P McCluskey1, M Korsakova1, A A Chang4,5. 1. Save Sight Institute, The University of Sydney, Sydney, NSW, Australia. 2. Sydney Institute for Vision Science, Sydney, NSW, Australia. 3. Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. 4. Save Sight Institute, The University of Sydney, Sydney, NSW, Australia. achang@sydneyretina.com.au. 5. Sydney Institute for Vision Science, Sydney, NSW, Australia. achang@sydneyretina.com.au.
Abstract
INTRODUCTION: We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. METHODS/CASE REPORT: A 14-year-old with a known retinal dystrophy presented with acute visual deterioration. Fluorescein angiography demonstrated CNV, and treatment was initiated with an anti-vascular endothelial growth factor (anti-VEGF) agent, with significant improvement in vision. Subsequent electroretinogram examination of the patient and her younger sister showed severely reduced rod responses with accentuated fast cone (S-cone only) response, confirming the diagnosis of ESCS as the underlying dystrophy. CONCLUSION: CNV is a rare complication of ESCS that is responsive to anti-VEGF therapy. Although cystic retinal lesions may develop in patients with retinal dystrophies due to multiple possible aetiologies, CNV is a known cause of macula oedema in these patients that requires treatment with different agents, namely anti-VEGF therapy. Rapid visual loss in patients with inherited retinal disorders should prompt immediate clinical assessment to exclude CNV, and if CNV is detected, anti-VEGF therapy can preserve vision.
INTRODUCTION: We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. METHODS/CASE REPORT: A 14-year-old with a known retinal dystrophy presented with acute visual deterioration. Fluorescein angiography demonstrated CNV, and treatment was initiated with an anti-vascular endothelial growth factor (anti-VEGF) agent, with significant improvement in vision. Subsequent electroretinogram examination of the patient and her younger sister showed severely reduced rod responses with accentuated fast cone (S-cone only) response, confirming the diagnosis of ESCS as the underlying dystrophy. CONCLUSION: CNV is a rare complication of ESCS that is responsive to anti-VEGF therapy. Although cystic retinal lesions may develop in patients with retinal dystrophies due to multiple possible aetiologies, CNV is a known cause of macula oedema in these patients that requires treatment with different agents, namely anti-VEGF therapy. Rapid visual loss in patients with inherited retinal disorders should prompt immediate clinical assessment to exclude CNV, and if CNV is detected, anti-VEGF therapy can preserve vision.
Authors: Isabelle Audo; Michel Michaelides; Anthony G Robson; Marko Hawlina; Veronika Vaclavik; Jennifer M Sandbach; Magella M Neveu; Chris R Hogg; David M Hunt; Anthony T Moore; Alan C Bird; Andrew R Webster; Graham E Holder Journal: Invest Ophthalmol Vis Sci Date: 2008-05 Impact factor: 4.799