PURPOSE: To evaluate the structural features of the macular region by enface OCT imaging in patients with clinical diagnosis of Stargardt disease, confirmed by the detection of ABCA4 mutations. METHODS: Thirty-two STGD patients were included in the study for a total of 64 eyes. All patients received a comprehensive ophthalmological examination, color fundus photography, fundus auto-fluorescence imaging and OCT. Five OCT scans were considered: ILM and RPE scans (both automatically obtained from the instrument), above-RPE slab, photoreceptor slab and sub-RPE slab (these last three manually obtained). RESULTS: ILM scans showed evident radial folds on the retinal surface in 8/64 eyes (12.5 %). In 6 of the 7 patients, these vitreo-retinal interface abnormalities were unilateral. The photoreceptor slab showed some macular alterations ranging from dis-homogeneous, hypo-reflective abnormalities (7/64 eyes, 11 %) to a homogeneous, well-defined, roundish, hypo-reflective area (17/64 eyes, 27 %) in all the eyes. The sub-RPE slab showed a centrally evident, hyper-reflective abnormality in 58/64 eyes (90.6 %). Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %). CONCLUSION: Enface OCT proved to be a clinically useful tool for the management of STGD patients, illustrating in vivo the structural abnormalities of the different retinal layers.
PURPOSE: To evaluate the structural features of the macular region by enface OCT imaging in patients with clinical diagnosis of Stargardt disease, confirmed by the detection of ABCA4 mutations. METHODS: Thirty-two STGDpatients were included in the study for a total of 64 eyes. All patients received a comprehensive ophthalmological examination, color fundus photography, fundus auto-fluorescence imaging and OCT. Five OCT scans were considered: ILM and RPE scans (both automatically obtained from the instrument), above-RPE slab, photoreceptor slab and sub-RPE slab (these last three manually obtained). RESULTS: ILM scans showed evident radial folds on the retinal surface in 8/64 eyes (12.5 %). In 6 of the 7 patients, these vitreo-retinal interface abnormalities were unilateral. The photoreceptor slab showed some macular alterations ranging from dis-homogeneous, hypo-reflective abnormalities (7/64 eyes, 11 %) to a homogeneous, well-defined, roundish, hypo-reflective area (17/64 eyes, 27 %) in all the eyes. The sub-RPE slab showed a centrally evident, hyper-reflective abnormality in 58/64 eyes (90.6 %). Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %). CONCLUSION: Enface OCT proved to be a clinically useful tool for the management of STGDpatients, illustrating in vivo the structural abnormalities of the different retinal layers.
Authors: Mehreen Adhi; Jonathan J Liu; Ahmed H Qavi; Ireneusz Grulkowski; James G Fujimoto; Jay S Duker Journal: Ophthalmic Surg Lasers Imaging Retina Date: 2013 Nov-Dec Impact factor: 1.300
Authors: Artur V Cideciyan; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Janet D Steinberg; Alexander J Brucker; Albert M Maguire; Jean Bennett; Edwin M Stone; Samuel G Jacobson Journal: Hum Mol Genet Date: 2004-01-06 Impact factor: 6.150
Authors: Mirjam E J van Velthoven; Koos de Vos; Frank D Verbraak; Chris W Pool; Marc D de Smet Journal: BMC Ophthalmol Date: 2005-06-13 Impact factor: 2.209
Authors: Talal Alabduljalil; Rachel C Patel; Abdullah A Alqahtani; Simon S Gao; Michael J Gale; Miao Zhang; Yali Jia; David Huang; Pei-Wen Chiang; Rui Chen; Jun Wang; Richard G Weleber; Mark E Pennesi; Paul Yang Journal: Am J Ophthalmol Date: 2019-02-14 Impact factor: 5.258
Authors: Vivienne C Greenstein; Jason Nunez; Winston Lee; Kaspar Schuerch; Brad Fortune; Stephen H Tsang; Rando Allikmets; Janet R Sparrow; Donald C Hood Journal: Invest Ophthalmol Vis Sci Date: 2017-10-01 Impact factor: 4.799