TY - JOUR
T1 - Macular telangiectasia type 2
AU - Charbel Issa, Peter
AU - Gillies, Mark C.
AU - Chew, Emily Y.
AU - Bird, Alan C.
AU - Heeren, Tjebo F.C.
AU - Peto, Tunde
AU - Holz, Frank G.
AU - Scholl, Hendrik P.N.
N1 - Funding Information:
Supported by the Lowy Medical Research Institute (The Macular Telangiectasia Project, www.mactelresearch.com ); ProRetina Deutschland (P.C.I.) ; Wynn-Gund Translational Research Acceleration Program Enhanced Research and Clinical Training Award , National Neurovision Research Institute (NNRI) – Foundation Fighting Blindness (FFB; NNCD-CL-0310.0049-JHU-WG ); Macular Degeneration Research Award , American Health Assistance Foundation (AHAF; M2010042 ); Unrestricted grant to the Wilmer Eye Institute from Research to Prevent Blindness ; Baylor-Johns Hopkins Center for Mendelian Genetics ( National Human Genome Research Institute, NHGRI/NIH ; Identification number: 1U54HG006542-01 ). H.P.N.S. is the Dr. Frieda Derdeyn Bambas Professor of Ophthalmology. None of the authors has a conflict of interest.
PY - 2013/5
Y1 - 2013/5
N2 - 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 non-neovascular 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.
AB - 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 non-neovascular 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.
KW - Imaging
KW - Macular pigment
KW - Macular telangiectasia
KW - Müller cell
KW - Neurodegeneration
KW - Optical coherence tomography (OCT)
KW - Phenotype
KW - Retina
KW - Treatment
KW - Vascular endothelial growth factor (VEGF)
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U2 - 10.1016/j.preteyeres.2012.11.002
DO - 10.1016/j.preteyeres.2012.11.002
M3 - Review article
C2 - 23219692
AN - SCOPUS:84876713679
SN - 1350-9462
VL - 34
SP - 49
EP - 77
JO - Progress in Retinal and Eye Research
JF - Progress in Retinal and Eye Research
ER -