En face OCT in Stargardt disease

• Published in: Graefe's archive for clinical and experimental ophthalmology Vol. 254; no. 9; pp. 1669 - 1679
• Main Authors: Sodi, Andrea, Mucciolo, Dario Pasquale, Cipollini, Francesca, Murro, Vittoria, Caporossi, Orsola, Virgili, Gianni, Rizzo, Stanislao
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.09.2016; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; ATP-Binding Cassette Transporters - genetics; ATP-Binding Cassette Transporters - metabolism; Child; DNA Mutational Analysis; Female; Fluorescein Angiography; Fundus Oculi; Humans; Macular Degeneration - congenital; Macular Degeneration - diagnosis; Macular Degeneration - genetics; Macular Degeneration - metabolism; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Ophthalmology; Ophthalmoscopy; Reproducibility of Results; Retinal Disorders; Retinal Pigment Epithelium - diagnostic imaging; Retrospective Studies; Tomography, Optical Coherence - methods; Young Adult; Stargardt; OCT; Photoreceptors; Retina; Maculopathy; Dystrophy
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s00417-015-3254-1

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.