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Tjebo Heeren, Frank Holz, Peter Charbel Issa; Very early disease manifestations in macular telangiectasia type 2. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2800.
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© ARVO (1962-2015); The Authors (2016-present)
To report the earliest retinal alterations in macular telangiectasia (MacTel) type 2 detectable using a multi-modal imaging approach.
Patients were selected from a single center cohort of 110 patients with MacTel type 2. Inclusion was based on an asymmetric disease manifestation where only one eye clearly allowed the diagnosis based on ophthalmoscopy, fluorescein angiography (Fl-A) and spectral domain optical coherence tomography (SD-OCT), whereas the other did not. The assessment included fundus photography, Fl-A, recordings of fundus autofluorescence (FAF), macular pigment optical density (MPOD; determined by cSLO two-wavelengths measurements) and SD-OCT for analysis of macular cross sections and macular thickness mapping.
Six patients with a mean age of 64±11 years (range, 43-72 years) were identified. Five out of the six seemingly unaffected eyes had a visual acuity (VA) of 20/20 or better. One eye with vitreomacular traction had a VA of 20/32. All those eyes showed an asymmetric configuration of the foveal pit being thinnest temporal to the foveal center. Within a similar area, three eyes revealed a slight focal reduction of MPOD, resulting in an associated increased signal on FAF imaging due to less absorption of the excitation light. Only two eyes showed a minor nonspecific leakage on Fl-A which did not allow the diagnosis of MacTel type 2 on its own. No significant functional deficits were detected on microperimetry testing.
Loss of macular pigment as well as thinning of the neurosensory retina, both occurring in the temporal paracentral area, may precede vascular alterations in a very early disease stage of MacTel type 2. These findings support previous studies showing that macular pigment loss exceeds the area of vascular alterations in later diseases stages, suggesting telangiectasia to occur secondarily to a degenerative disease process. Identification of affected patients or family members may be facilitated using herein presented but hitherto not applied diagnostic standards.
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