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Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, Melanie Bahlo
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10(-8)) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10(-17); rs715 at 2q34, P = 9.97 × 10(-14); rs477992 at 1p12, P = 2.60 × 10(-12)) and then replicated (P < 0...
April 2017: Nature Genetics
Talha Soorma, Tjebo Heeren, Daniela Florea, Irene Leung, Tunde Peto
PURPOSE: To compare two modalities used for detection of the characteristic parafoveal hyperreflective area seen in macular telangiectasia Type 2. METHODS: Scanning laser ophthalmoscope blue light reflectance was compared with red-free fundus photography imaging. Images were obtained as part of the international Natural History Study of Macular Telangiectasia (MacTel Study). RESULTS: The hyperreflective area can more frequently be seen with scanning laser ophthalmoscope blue light reflectance than with red-free imaging...
February 10, 2017: Retinal Cases & Brief Reports
Laura Kowalczuk, Alexandre Matet, Ali Dirani, Alejandra Daruich, Aude Ambresin, Irmela Mantel, Richard F Spaide, Natacha Turck, Francine Behar-Cohen
PURPOSE: To evaluate intravitreal aflibercept in macular telangiectasia Type 1 (MacTel 1) patients and measure their ocular angiogenic profile. METHODS: Eight subjects with MacTel 1 refractory to bevacizumab, ranibizumab, or laser therapy and switched to aflibercept were included. Best-corrected visual acuity, central macular thickness, and cystic areas quantified on optical coherence tomography B-scans were assessed during 12 months. Perifoveal capillary densities were measured on optical coherence tomography angiography...
December 20, 2016: Retina
Duc Anh Hua, Giulio Barteselli, Jay Chhablani
PURPOSE: To describe characteristics of outer retinal tubulation (ORT) in eyes with subretinal neovascular membrane (SRNVM) associated with Macular Telangiectasia type 2 (MacTel type 2). METHODS: A retrospective analysis of longitudinal spectral domain optical coherence tomography (SD-OCT) scans of 46 eyes of 30 patients with SRNVM associated with MacTel type 2 was performed. To identify ORTs, each B-scan image of the macular cube (512 X 128) scan on the Cirrus® SD-OCT was reviewed...
December 14, 2016: Seminars in Ophthalmology
Durgasri Jaisankar, Rajiv Raman, Harshal Gondhale, Jay Chhablani, Manisha Agarwal
PURPOSE: To evaluate changes in foveal and parafoveal thickness measured using optical coherence tomography across five stages of macular telangiectasia 2 (MacTel 2) and to correlate the foveal slope angle with best-corrected visual acuity (BCVA). METHODS: A multicentered, cross-sectional study of 90 patients with bilateral MacTel 2 was carried out. We reviewed medical records of patients who had undergone optical coherence tomography. Mean retinal thickness foveal and subfoveal were noted from ETDRS (Early Treatment Diabetic Retinopathy Study) mapping and later used for calculating foveal slope angle...
December 7, 2016: Retina
Christina L Ryu, Mikel Mikhail, Ayesha Khan, John C Chen, Amer Omar
PURPOSE: To report a case of macular telangiectasia Type 2 in a teenage boy with consanguineous parents. METHOD: Clinical case report and literature review. RESULTS: A healthy 14-year-old boy presented with mildly reduced vision in both eyes. Visual acuity was 20/30 in the right eye and 20/25 in the left eye. Fundus examination revealed intraretinal crystals in both eyes and an intraretinal pigment plaque temporal to the fovea in the left eye...
November 8, 2016: Retinal Cases & Brief Reports
Hemal Mehta, Simone Müller, Catherine A Egan, Simona Degli Esposti, Adnan Tufail, Dawn A Sim, Frank G Holz, Andrew C Browning, Winfried M Amoaku, Peter Charbel Issa, Mark C Gillies
AIM: To report the natural history of subretinal fluid (SRF) causing foveal detachment in macular telangiectasia type 2 (MacTel) and our experience of therapeutic intervention with intravitreal steroids or antivascular endothelial growth factor inhibitor (anti-VEGF) agents in some cases. METHODS: Retrospective case series. Three of the MacTel study's largest registries were searched to identify eyes with foveal detachment. RESULTS: We identified 7 eyes from 6 exclusively female patients...
October 28, 2016: British Journal of Ophthalmology
Lisa Toto, Luca Di Antonio, Rodolfo Mastropasqua, Peter A Mattei, Paolo Carpineto, Enrico Borrelli, Marco Rispoli, Bruno Lumbroso, Leonardo Mastropasqua
PURPOSE: To report morphologic features of idiopathic macular telangiectasia (MacTel) type 2 by means of optical coherence tomography angiography (OCTA) and to compare these findings to fundus fluorescein angiography (FFA), fundus autofluorescence (FAF), confocal blue reflectance (CBR), and spectral-domain OCT (SD-OCT). In addition, foveal vessel density and parafoveal vascular density (PFVD), and foveal retinal thickness and parafoveal retinal thickness (PFRT) were compared between MacTel 2 patients and normal aged-matched controls...
July 1, 2016: Investigative Ophthalmology & Visual Science
Jaclyn L Kovach, Harald Hess, Philip J Rosenfeld
A 60-year-old man diagnosed with macular telangiectasia type 1 (MacTel 1) was treated for 3 years with monthly aflibercept (Eylea; Regeneron, Tarrytown, NY) and serially imaged with spectral-domain optical coherence tomography. When administered monthly, aflibercept appeared to have a beneficial effect on macular edema secondary to MacTel 1. Visual acuity preservation despite minimal chronic macular edema could be attributed to the lack of significant photoreceptor disruption. [Ophthalmic Surg Lasers Imaging Retina...
June 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Anna C S Tan, Chandrakumar Balaratnasingam, Lawrence A Yannuzzi
BACKGROUND AND OBJECTIVE: To assess the outcomes of patients with macular telangiectasia type 2 (MacTel 2) in response to lutein (L), meso-zeaxanthin (M), and zeaxanthin (Z) supplements (LMZ3). PATIENTS AND METHODS: Thirteen patients diagnosed with MacTel 2 were started on lutein 10 mg, meso-zeaxanthin 10 mg, and zeaxanthin 2 mg and were followed-up for a mean period of 15.7 months ± 4.85 months. RESULTS: Visual acuity improved in three patients (13%), and there was a reduction in the percentage of patients who had worsening vision (25% to 4%; P < ...
June 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Okan Toygar, Matthew G Guess, David S Youssef, Daniel M Miller
PURPOSE: To assess the long-term visual acuity results for intravitreal bevacizumab therapy in the treatment of subretinal neovascular membrane (SRNVM) secondary to idiopathic macular telangiectasia (Mactel) Type 2. METHODS: This retrospective review of a consecutive, interventional case series includes patients with SRNVM secondary to Mactel Type 2 who were seen at Cincinnati Eye Institute from February 2006 to December 2014. Best-corrected visual acuity, fluorescein angiography, and optical coherence tomography measurements were performed...
November 2016: Retina
Daniel Lavinsky, Jenny Wang, Philip Huie, Roopa Dalal, Seung Jun Lee, Dae Yeong Lee, Daniel Palanker
PURPOSE: Retinal photocoagulation and nondamaging laser therapy are used for treatment of macular disorders, without understanding of the response mechanism and with no rationale for dosimetry. To establish a proper titration algorithm, we measured the range of tissue response and damage threshold. We then evaluated safety and efficacy of nondamaging retinal therapy (NRT) based on this algorithm for chronic central serous chorioretinopathy (CSCR) and macular telangiectasia (MacTel). METHODS: Retinal response to laser treatment below damage threshold was assessed in pigmented rabbits by expression of the heat shock protein HSP70 and glial fibrillary acidic protein (GFAP)...
May 1, 2016: Investigative Ophthalmology & Visual Science
Irini P Chatziralli, Poonam K Sharma, Sobha Sivaprasad
PURPOSE: The purpose of this systematic review was to stratify the literature on the therapeutic approaches for macular telangiectasia (Mactel type 1 and 2) to provide evidenced-based practical guidelines for the optimal standard care of these conditions. METHODS: A comprehensive search of PubMed was performed using a specific search algorithm. All articles retrieved were carefully screened and their references were manually reviewed for additional relevant data...
2017: Seminars in Ophthalmology
Lavanya Chidambara, Santosh G K Gadde, Naresh Kumar Yadav, Chaitra Jayadev, Devanshi Bhanushali, Abhishek M Appaji, Mukunda Akkali, Aruj Khurana, Rohit Shetty
BACKGROUND: Macular telangiectasia type 2 (MacTel 2) is a bilateral idiopathic, rare neurodegenerative disease with alterations in the macular capillary network leading to vision loss and is the most common of three subtypes. Optical coherence tomography angiography (OCTA) is a non-invasive imaging modality which helps understand the complex pathological changes, and images the blood vessels across different layers based on their flow characteristics. METHODS: A cross-sectional study was conducted on 56 eyes of Asian Indian eyes of 28 consecutive patients with MacTel 2 studied during a 3-month period in a tertiary eye care hospital of South India...
November 2016: British Journal of Ophthalmology
Qinqin Zhang, Ruikang K Wang, Chieh-Li Chen, Andrew D Legarreta, Mary K Durbin, Lin An, Utkarsh Sharma, Paul F Stetson, John E Legarreta, Luiz Roisman, Giovanni Gregori, Philip J Rosenfeld
BACKGROUND/PURPOSE: To image subretinal neovascularization in proliferative macular telangiectasia Type 2 (MacTel2) using swept source optical coherence tomography based microangiography (OMAG). METHODS: Patients with macular telangiectasia Type 2 were enrolled in a prospective, observational study known as the MacTel Project and evaluated using a high-speed 1,050 nm swept-source OCT prototype system. The OMAG algorithm generated en face flow images from three retinal layers, and the region bounded by the outer retina and Bruch membrane, the choriocapillaris, and the remaining choroidal vasculature...
November 2015: Retina
Julie Jacob, Valérie Krivosic, Michel Paques, Ramin Tadayoni, Alain Gaudric
PURPOSE: To determine whether cone photoreceptors are impaired early in macular telangiectasia type 2 (MacTel 2) progression. METHODS: Eight patients with MacTel 2 lacking intraretinal cavitation underwent multimodal retinal imaging including adaptive optics. Cone packing metrics were determined in 5 sampling windows at different eccentricities from the fovea. Results were compared with a previously established normative database. RESULTS: In MacTel 2 eyes, cone density was significantly lower than normal at all eccentricities (P < 0...
March 2016: Retina
D Pauleikhoff, B Heimes, G Spital, M Gutfleisch, M Ziegler, B Book, M-L Farecki, A P Lommatzsch
Recent developements in OCT technology using high speed acquisition and calculation of consecutive scans (SSADA = split spectrum amplitude decorrelation algorithm) have resulted in the possibility to demonstrate retinal and choroidal vessels in the macula. This new technology of "OCT angiography" thus allows the non-invasive and rapid (within seconds) reconstruction of the three-dimensional structure of the retinal and choroidal vascularisation. There are still limitations caused by movement artefacts, superposition of superficial retinal vessels at the RPE level or insufficient three-dimensional imaging, but the first experience with this new method and especially the correlations with the current standard diagnostic procedure fluorescein angiography shows that especially for vascular changes which are predominantly in one retinal layer (e...
September 2015: Klinische Monatsblätter Für Augenheilkunde
Tjebo F C Heeren, Traci Clemons, Hendrik P N Scholl, Alan C Bird, Frank G Holz, Peter Charbel Issa
PURPOSE: To investigate progressive vision loss in patients with macular telangiectasia (MacTel) type 2 and to compare the ability to detect functional decline between microperimetry and visual acuity testing. METHODS: Change of cumulative defect size (number of test points with absolute scotoma) on microperimetry testing and change in distance best-corrected visual acuity (BCVA) were evaluated in a prospective longitudinal observational study. RESULTS: The mean review period was 55...
June 2015: Investigative Ophthalmology & Visual Science
Sung Hyun Kim, Jaeryung Oh, Soh-Eun Ahn, Choul Yong Park, Jong-Hyun Oh
PURPOSE: To investigate the clinical and demographic features of idiopathic macular telangiectasia (MacTel) in Korean patients since the introduction of spectral domain optical coherence tomography (SD-OCT). METHODS: We reviewed medical records of patients who were diagnosed with MacTel from 2009 to 2013. All patients underwent fluorescein angiography and SD-OCT and were classified as type 1 or type 2 according to the classification system proposed by Yannuzzi. RESULTS: Over a period of 5 years, 4 (18...
June 2015: Korean Journal of Ophthalmology: KJO
Min Zhao, Charlotte Andrieu-Soler, Laura Kowalczuk, María Paz Cortés, Marianne Berdugo, Marilyn Dernigoghossian, Francisco Halili, Jean-Claude Jeanny, Brigitte Goldenberg, Michèle Savoldelli, Mohamed El Sanharawi, Marie-Christine Naud, Wilfred van Ijcken, Rosanna Pescini-Gobert, Danielle Martinet, Alejandro Maass, Jan Wijnholds, Patricia Crisanti, Carlo Rivolta, Francine Behar-Cohen
We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction...
April 15, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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