Macular telangiectasia type 2

Abstract

Macular telangiectasia type 2 is a bilateral disease of unknown cause with characteristic alterations of the macular capillary network and neurosensory atrophy. Its prevalence may be underestimated and has recently been shown to be as high as 0.1% in persons 40 years and older. Biomicroscopy may show reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy, and neovascular complexes. Fluorescein angiography shows telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. High-resolution optical coherence tomography (OCT) may reveal disruption of the photoreceptor inner segment–outer segment border, hyporeflective cavities at the level of the inner or outer retina, and atrophy of the retina in later stages. Macular telangiectasia type 2 shows a unique depletion of the macular pigment in the central retina and recent therapeutic trials showed that such depleted areas cannot re-accumulate lutein and zeaxanthin after oral supplementation. There have been various therapeutic approaches with limited or no efficacy. Recent clinical trials with compounds that block vascular endothelial growth factor (VEGF) have established the role of VEGF in the pathophysiology of the disease, but have not shown significant efficacy, at least for the nonneovascular disease stages. Recent progress in structure–function correlation may help to develop surrogate outcome measures for future clinical trials. In this review article, we summarize the current knowledge on macular telangiectasia type 2, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Findings using retinal imaging are discussed, including fluorescein angiography, OCT, adaptive optics imaging, confocal scanning laser ophthalmoscopy, and fundus autofluorescence, as are the findings using visual function testing including visual acuity and fundus-controlled microperimetry. We provide an overview of the therapeutic approaches for both non-neovascular and neovascular disease stages and provide a perspective of future directions including animal models and potential therapeutic approaches.

Stereoscopic Vision in Macular Telangiectasia Type 2

“…In this single-center cross-sectional study, the diagnosis of MacTel type 2 was based on characteristic findings on funduscopy, spectral-domain optical coherence tomography, macular pigment distribution, and fluorescein angiography [1]. The patients of the MacTel natural history and observation study (NHOS) were recruited from a single-center cohort at the Department of Ophthalmology, University of Bonn, Germany.…”

“…The disease commonly presents with characteristic findings on funduscopy and multimodal imaging [1]. Although the exact pathophysiology is not yet fully understood, recent findings point towards a multifactorial and complex disease, where a genetic predisposition as well as environmental factors may play a role [2, 3].…”

“…Although the exact pathophysiology is not yet fully understood, recent findings point towards a multifactorial and complex disease, where a genetic predisposition as well as environmental factors may play a role [2, 3]. Phenotypic observations have led to the hypothesis of a neurodegenerative disease with additional vascular alterations [1, 4]. …”

Reduced-Fluence Photodynamic Therapy Combined with Ranibizumab for Nonproliferative Macular Telangiectasia Type 2

“…Considering a possible neurodegenerative component in the pathophysiology of MacTel type 2, long-term suppression of VEGF, which has been shown to act as a survival factor and neuroprotectant for retinal cells, might be disadvantageous [2,32,33]. …”

“…Idiopathic macular telangiectasia (MacTel) is a vascular anomaly of unknown cause affecting retinal capillaries in the macula [1,2]. …”