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• W2994224601 abstract "In Brief Background: To report very early morphologic and functional alterations in patients with macular telangiectasia type 2. Methods: Patients with asymmetric disease manifestations, in whom retinal alterations characteristic for macular telangiectasia type 2 were present in one but not in the apparently unaffected fellow eye, underwent multimodal imaging and functional testing (microperimetry, visual acuity, reading ability, Amsler test). Results: Fellow eyes not allowing the diagnosis of macular telangiectasia type 2 based on hitherto diagnostic standards consistently showed a severely reduced directional cone reflectance (Stiles–Crawford effect). Optical coherence tomography revealed an asymmetric configuration of the foveal pit with focal temporal thinning most pronounced at 1° eccentricity. Topographically related, macular pigment optical density was reduced in a small wedge-shaped temporal paracentral sector, resulting in an increased signal on fundus autofluorescence and fluorescein angiography imaging. No functional deficits were detectable in fellow eyes. Haidinger brushes were perceived in the fellow eye but not in the affected index eye with pronounced loss of macular pigment. Conclusion: Specific morphologic alterations precede vascular alterations and functional deficits in macular telangiectasia type 2. The described alterations indicate a primarily degenerative process with a secondary retinal vascular phenotype, and may be helpful for early identification of patients and affected family members. Severe reduction of directional cone reflectance, asymmetry of the foveal pit, and focal loss of macular pigment were the earliest detectable changes in eyes with macular telangiectasia type 2. These findings suggest a primarily degenerative process that precedes vascular alterations." @default.
• W2994224601 created "2019-12-13" @default.
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• W2994224601 creator A5043730929 @default.
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• W2994224601 date "2016-03-01" @default.
• W2994224601 modified "2023-09-26" @default.
• W2994224601 title "VERY EARLY DISEASE MANIFESTATIONS OF MACULAR TELANGIECTASIA TYPE 2" @default.
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• W2994224601 doi "https://doi.org/10.1097/iae.0000000000000863" @default.
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