scholarly journals The Role of Diagnostic Imaging in Macular Telangiectasia Type 2

2021 ◽  
Author(s):  
Brett Zerbinopoulos
Keyword(s):  
Diagnostic Imaging ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

scholarly journals Right-angled vessels in macular telangiectasia type 2

2019 ◽  
pp. bjophthalmol-2018-313364 ◽  
Author(s):  
Simone Tzaridis ◽  
Tjebo Heeren ◽  
Clarissa Mai ◽  
Sarah Thiele ◽  
Frank G Holz ◽  
...  
Keyword(s):  
Disease Progression ◽  
Morphological Changes ◽  
Fundus Photography ◽  
Outer Retina ◽  
Macular Telangiectasia ◽  
Age Related ◽  
Macular Telangiectasia Type 2 ◽  
Sd Oct

PurposeTo evaluate the role of right-angled vessels (RAVs) during disease progression in macular telangiectasia type 2 (MacTel).MethodsIn this study, 100 eyes of 52 patients and 52 eyes of 26 age-related controls were examined using fundus photography, spectral-domain optical coherence tomography (SD-OCT), OCT angiography (OCT-A) and fundus fluorescein angiography (FFA). Two masked readers graded fundus photographs of patients’ eyes into five disease stages according to Gass and Blodi, and evaluated all eyes for the presence of RAVs. If RAVs were present, their course and origin (arterial vs venous) was evaluated with OCT-A and FFA, respectively. Additionally, we looked for morphological correlates of these vessels on SD-OCT scans. Neovascular eyes were analysed for the presence of RAVs and for morphological changes on formation of neovascularisations (NVs).ResultsIn OCT-A, RAVs were already detectable in eyes with early stages (1 to 2), could be tracked from superficial to outer retinal layers and were shown to form anastomoses in the outer retina with disease progression. These vessels were of both arterial and venous origin as shown by early phase FFA. Dilated capillaries and RAVs in OCT-A corresponded to hyper-reflective alterations of the outer retina on SD-OCT scans. In 19/19 eyes, NVs were associated with the presence of RAVs, and RAVs were shown to directly connect to neovascular complexes and to undergo morphological changes upon NV formation.ConclusionsThe results emphasise the role of RAVs during disease progression from an early stage on and demonstrate their involvement in the development of secondary NVs in MacTel.

Prevalence and Severity of Diabetic Retinopathy in Patients with Macular Telangiectasia type 2.

2021 ◽  
Author(s):  
Saskia HM. van Romunde ◽  
Charlotte M. van der Sommen ◽  
José P. Martinez Ciriano ◽  
Johannes R. Vingerling ◽  
Suzanne Yzer
Keyword(s):  
Diabetic Retinopathy ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

scholarly journals Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Roberto Bonelli ◽  
◽  
Brendan R. E. Ansell ◽  
Luca Lotta ◽  
Thomas Scerri ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Complex Disease ◽  
Retinal Imaging ◽  
Mendelian Randomisation ◽  
Imaging Data ◽  
Association Analyses ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
Retinal Vascular Calibre

Abstract Background Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production; however, an independent vascular contribution is also suspected. Here, we use statistical genetics to dissect the causal mechanisms underpinning this complex disease. Methods We integrated genetic markers for MacTel, vascular and metabolic traits, and applied Mendelian randomisation and conditional and interaction genome-wide association analyses to discover the causal contributors to both disease and spatial retinal imaging sub-phenotypes. Results Genetically induced serine deficiency is the primary causal metabolic driver of disease occurrence and progression, with a lesser, but significant, causal contribution of type 2 diabetes genetic risk. Conversely, glycine, threonine and retinal vascular traits are unlikely to be causal for MacTel. Conditional regression analysis identified three novel disease loci independent of endogenous serine biosynthetic capacity. By aggregating spatial retinal phenotypes into endophenotypes, we demonstrate that SNPs constituting independent risk loci act via related endophenotypes. Conclusions Follow-up studies after GWAS integrating publicly available data with deep phenotyping are still rare. Here, we describe such analysis, where we integrated retinal imaging data with MacTel and other traits genomics data to identify biochemical mechanisms likely causing this disorder. Our findings will aid in early diagnosis and accurate prognosis of MacTel and improve prospects for effective therapeutic intervention. Our integrative genetics approach also serves as a useful template for post-GWAS analyses in other disorders.

CRYSTALLINE RETINOPATHY WITH PERIFOVEAL TELANGIECTASIA – A CASE REPORT

2021 ◽  
pp. 23-24
Author(s):  
Vishal Agrawal ◽  
Anushree Sharma
Keyword(s):  
Crystalline Retinopathy ◽  
Macular Telangiectasia ◽  
Macular Holes ◽  
Capillary Plexus ◽  
Macular Telangiectasia Type 2 ◽  
One Year ◽  
Systemic Examination ◽  
Work Up ◽  
Foveal Cavitation

We report a case of Macular Telangiectasia type 2 with crystalline retinopathy in a 42 year old female complaining of gradual decrease of vision in both eyes for the past one year. Both eye fundus showed perifoveal refractile crystals with lamellar macular holes. A diagnosis of crystalline retinopathy was made. Other causes of crystals were ruled out based on history, systemic examination, multimodal imaging & laboratory work-up. Presence of dilated perifoveal deep capillary plexus, foveal cavitation & temporal leakage on FFA conrmed association with Macular Telangiectasia. To our knowledge, there is no thorough documentation of crystalline reti-nopathy reported in Indian population.

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

2013 ◽  
Vol 229 (4) ◽  
pp. 195-202 ◽  
Author(s):  
Claus Zehetner ◽  
Gertrud Haas ◽  
Bernhard Treiblmayr ◽  
Gerhard F. Kieselbach ◽  
Martina T. Kralinger
Keyword(s):  
Photodynamic Therapy ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

SEX STEROIDS AND MACULAR TELANGIECTASIA TYPE 2

Retina ◽  
2017 ◽  
pp. 1
Author(s):  
Simone Müller ◽  
Jean-Pierre Allam ◽  
Christopher G. Bunzek ◽  
Traci E. Clemons ◽  
Frank G. Holz ◽  
...  
Keyword(s):  
Sex Steroids ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2
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