scholarly journals ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE–FUNCTION CORRELATION

Retina ◽  
2017 ◽  
pp. 1 ◽  
Author(s):  
Mali Okada ◽  
Anthony G. Robson ◽  
Catherine A. Egan ◽  
Ferenc B. Sallo ◽  
Simona Degli Esposti ◽  
...  
2021 ◽  
Author(s):  
Apoorva Ayachit ◽  
Lakshmipriya Uday Reddy ◽  
Shrinivas Joshi ◽  
Guruprasad Ayachit

Abstract 1. Purpose: To study the correlation of multimodal imaging in macular telangiectasia (Mac Tel) with foveal function on multifocal electroretinogram (mfERG)2. Methods: Eyes with non- proliferative Mac Tel diagnosed based on clinical examination, optical coherence tomography (OCT), autofluorescence (AF), fluorescein angiography (FA), OCT angiography (OCTA). Control group with normal eye exam included for multifocal electroretinogram.Staging of OCT, OCTA, AF and FA done in Mac Tel subjects. mfERG done in study subjects and controls. Correlation of imaging modalities and P1 amplitudes at fovea (ring 1) studied in terms of correlation co-efficient.3. Results: Twenty nine eyes of 16 patients of Mac Tel and 25 eyes of 19 controls were included. BCVA was 0.38 ± 0.266 in study eyes and 0 in control eyes. On OCT it was observed that 41.4% Mac Tel eyes (n = 12) belonged to stage 3, 37.9%(n = 11)) eyes belonged to stage 2 and 20.7% (n = 6) eyes belonged to stage 1. AF- Stage 3 comprised of 75.9% eyes (n = 22); 4 eyes belonged to stage 2 and 3 eyes to stage 1. On FA, 18 eyes belonged to stage 3 (62.1%); stage 2 was seen in 1 (3.4%) eye and stage 1 was seen in 10 (34.5%) eyes. There was decrease in P1 amplitudes from R1(p < 0.001), R2( 0.001), R3 (< 0.001) and R4 (0.001) in Mac Tel eyes compared to control eyes but not in R5 (p 0.785). SD- OCT had positive correlation with FAF (CC 0.747,p < 0.001) FFA (CC 0.775, p < 0.001) and R1P1 (CC 0.682, p < 0.001). With OCTA there was no significant correlation (CC 0.318, p 0.093). There was positive and significant correlation of OCT (0.682,<0.001), OCTA (0.379,p 0.042) AF ( 0.635, p < 0.001) and FA (0.495, p < 0.006) with R1P1.4. Conclusions: Existing multimodal imaging systems can be reliable indicators of foveal function as on mfERG.


Author(s):  
Saskia HM. van Romunde ◽  
Charlotte M. van der Sommen ◽  
José P. Martinez Ciriano ◽  
Johannes R. Vingerling ◽  
Suzanne Yzer

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Roberto Bonelli ◽  
◽  
Brendan R. E. Ansell ◽  
Luca Lotta ◽  
Thomas Scerri ◽  
...  

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.


2021 ◽  
pp. 23-24
Author(s):  
Vishal Agrawal ◽  
Anushree Sharma

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.


2013 ◽  
Vol 229 (4) ◽  
pp. 195-202 ◽  
Author(s):  
Claus Zehetner ◽  
Gertrud Haas ◽  
Bernhard Treiblmayr ◽  
Gerhard F. Kieselbach ◽  
Martina T. Kralinger

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