scholarly journals Adaptive Optics Microperimetry and OCT Images Show Preserved Function and Recovery of Cone Visibility in Macular Telangiectasia Type 2 Retinal Lesions

2015 ◽  
Vol 56 (2) ◽  
pp. 778-786 ◽  
Author(s):  
Q. Wang ◽  
W. S. Tuten ◽  
B. J. Lujan ◽  
J. Holland ◽  
P. S. Bernstein ◽  
...  
Keyword(s):  
Adaptive Optics ◽  
Retinal Lesions ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2

scholarly journals Topographic Relationship between Telangiectasia and Cone Mosaic Disruption in Macular Telangiectasia Type 2

2020 ◽  
Vol 9 (10) ◽  
pp. 3149
Author(s):  
Roya Zandi ◽  
Jessica Song ◽  
Paul S. Micevych ◽  
Amani A. Fawzi
Keyword(s):  
Adaptive Optics ◽  
Early Stage ◽  
Cross Sectional ◽  
Photoreceptor Layer ◽  
Cone Mosaic ◽  
Spectral Domain Oct ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
Sd Oct

In this cross-sectional observational study, we investigated the relationship between photoreceptor layer disruption and telangiectasia in patients diagnosed with early stage macular telangiectasia type 2 (MacTel). A total of 31 eyes (17 patients) with MacTel were imaged with adaptive optics scanning laser ophthalmoscopy (AOSLO) and optical coherence tomography angiography (OCTA). Confocal AOSLO was used to visualize dark regions of nonwaveguiding outer segments, which we refer to as “photoreceptor lesions”. En-face OCTA images of the deep capillary plexus (DCP) were used in conjunction with confocal AOSLO to evaluate the topographic relationship between areas of capillary telangiectasias and photoreceptor lesions. Among seven eyes with early stage MacTel (stage 0–2 based on OCT), we identified ten photoreceptor lesions, all of which were located within parafoveal quadrants containing DCP telangiectasia on OCTA. Seven of the lesions corresponded to the intact ellipsoid zone on spectral-domain OCT (SD-OCT), and three of these also corresponded to the intact interdigitation zone. This work demonstrates a topographic relationship between AOSLO photoreceptor lesions and DCP telangiectasias, and it also suggests that these lesions with normal SD-OCT appearance may represent areas of photoreceptors at risk for dysfunction. Thus, confocal AOSLO may have a meaningful role in detecting early photoreceptor abnormalities in eyes with MacTel.

CONE DENSITY LOSS ON ADAPTIVE OPTICS IN EARLY MACULAR TELANGIECTASIA TYPE 2

Retina ◽  
2016 ◽  
Vol 36 (3) ◽  
pp. 545-551 ◽  
Author(s):  
Julie Jacob ◽  
Valérie Krivosic ◽  
Michel Paques ◽  
Ramin Tadayoni ◽  
Alain Gaudric
Keyword(s):  
Adaptive Optics ◽  
Macular Telangiectasia ◽  
Macular Telangiectasia Type 2 ◽  
Cone Density

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.

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