scholarly journals Macular Telangiectasia type 2: multimodal assessment of retinal function and microstructure

2021 ◽  
Author(s):  
Anna A. Ledolter ◽  
Robin Ristl ◽  
Anja M. Palmowski‐Wolfe ◽  
Alessio Montuoro ◽  
Gabor G. Deak ◽  
...  
Keyword(s):  
Retinal Function ◽  
Multimodal Assessment ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

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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