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M.K. Russell, A. Fawzi, A. Walsh, S. Sadda, I.H. Maumenee, K.A. Tawansy; Fluorescein Angiography Abnormalities in a Case Series of Leber Congenital Amaurosis . Invest. Ophthalmol. Vis. Sci. 2005;46(13):551.
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Purpose: Leber Congenital Amaurosis (LCA) is a clinically and genetically heterogenous disorder with profound visual loss in infancy. Retinal vascular attenuation is a known feature in many cases of LCA. Fluorescein angiographic abnormalities have not been reported. The objective of this study is to describe the fluorescein angiogram features in five patients with LCA and to correlate these with the specific genetic defect responsible for the disease in each patient. Methods: Color photography and fluorescein angiography was performed on five patients diagnosed as having genuine LCA. The RetCam 120 was used to obtain images three patients. Standard film photography was performed in the remaining two patients. A panel of retinal specialists reviewed the fluorescein angiograms of each patient. Additional evaluation included visual acuity testing, slit lamp examination, dilated fundus examination and ERG testing. DNA was isolated from peripheral blood samples taken from each patient and was analyzed for mutations in GUCY2D, RPE65, CRX, AIPL–1, CRB–1 and RPGRIP–1 genes known to be associated with LCA. The genotypic abnormalities were correlated with fluorescein angiogram findings in each case. Results: The fluorescein angiogram abnormalities included one case of peripheral capillary non–perfusion associated with anomalous peripheral vascular anastamoses together with late flourescein leakage and staining of peripheral retinal vessels. One case demonstrated concentric midperipheral hyperfluorescence due to increased RPE transmission of fluorescence and subsequent late RPE staining. In addition, mild late staining of mid–peripheral retinal flecks was present. Three cases showed vascular attenuation and peripheral retinal capillary non–perfusion. The result of genetic testing is presented for each patient. Conclusions: Peripheral retinal non–perfusion is a common fluorescein angiographic finding in LCA. In addition, LCA is associated with a variety of other angiographic abnormalities including anomalous peripheral vascular anastomoses, peripheral intra–retinal fluorescein leakage, retinal vascular attenuation and RPE transmission defects. Altered retinal architecture and metabolism which is known to occur in LCA may cause secondary changes in vasculogenesis in utero which in term may be responsible for the abnormalities detected on fluorescein angiography in this series.
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