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Purpose: Down syndrome (DS) is one of the most prevalent genetic diseases associated with a variety of ophthalmic disorders, including reported retinal abnormalities. Macular telangiectasia type 2 (MacTel 2) is a late-onset neurodegenerative retinal disease with a substantial genetic component. We hereby describe a case of a female with DS who presented with MacTel 2, and we discuss the possible pathways associating both entities. Observation: We report the case of a 49-year-old female with a medical history of DS and hydroxychloroquine (HCQ) intake. She was referred for HCQ retinal toxicity screening. The multimodal imaging revealed a temporal perifoveal gray area with crystal deposits on multicolor fundoscopy with parafoveal outer retinal atrophy and ellipsoid zone loss with inner retinal cavitations in both eyes on the optical Coherence Tomography (OCT) B scan. The corresponding swept-source OCT angiography confirmed the presence of bilateral macular telangiectasia. Conclusion and importance: Metabolic pathways including serine/glycine and sphingolipids are incriminated in both entities' pathogenesis suggesting a possible association, hence, the importance of raising awareness of this association. More cases are likely to be found since DS patients currently have a nearly normal lifespan. Additional retinal examination of DS adults is then necessary to look for signs of MacTel 2.

Tamoxifen is a selective estrogen receptor modulator used mainly for the treatment of breast cancer. Based on the case reports and studies performed to date on the retinal toxicity of tamoxifen, retinopathy appears to occur in as many as 12% of patients taking 20 mg tamoxifen a day for over 2 years. Of this 12%, as many as half develop symptomatic changes in visual acuity. Retinal changes consist primarily of crystalline deposits, cystoid macular edema, hyperreflective deposits in the inner retinal layers, and telangiectasia. Tamoxifen retinopathy is currently managed by discontinuing tamoxifen therapy as the cancer prognosis permits; however, discontinuing therapy demonstrates little to no improvement in visual acuity once visual changes have taken place. Intravitreal injections of steroids or antivascular endothelial growth factor therapy have been performed, but require further studying before conclusions can be made. Until then, optical coherence tomography screening for retinal changes should be performed every 6 months for patients who have been on tamoxifen therapy for 2 years or more. This way, patients can become aware of retinal changes, and their physicians can consider adjusting tamoxifen therapy before they risk developing changes in visual acuity. [ABSTRACT FROM AUTHOR]

Abstract Purpose Macular telangiectasia (MacTel) type 2 is observed in patients in their 5th–8th decades of life. The clinical and imaging findings in younger patients is unknown in larger cohorts. The study purpose is to report prevalence, baseline clinical and spectral domain optical coherence tomography (SDOCT) findings in young MacTel patients below 40 years. Methods This hospital-based, multicentre, retrospective, cross-sectional study included patients between 2011 and 2023. Retinal photographs from multiple imaging techniques were evaluated to diagnose and stage type 2 MacTel and describe their SDOCT findings. Imaging characteristics were correlated with clinical stages and visual acuity. Results Among all MacTel patients seen in hospital, prevalence of young MacTel cases less than age 40 was 1.77% (32/1806; 62 eyes). Youngest participant was 34 years, while mean age was 38.44 ± 1.795 years. Sixteen patients (50%) were diabetics. Perifoveal greying (n = 56, 90%) and perifoveal hyperreflective middle retinal layers (n = 47, 76%) were the most prevalent clinical and SDOCT imaging finding respectively. Less than 10% (n = 6) eyes had proliferative disease. Presence of retinal pigment clumps (RPC) (7% vs. 67%; p = 0.002) coincided with proliferative MacTel. Poor vision was associated with presence of outer retinal layer SDOCT findings like outward bending of inner retinal layers (p = 0.047), RPC (p = 0.007), subfoveal neurosensory detachment (p = 0.048) and subretinal neovascular membrane (p = 0.001). Conclusion Type 2 MacTel before age 40 is rare, common in women and diabetics, and affects vision in advanced stage. Disease symmetry, comparison with older cases, and longitudinal SDOCT changes in such patients require further study.

Purpose: Macular telangiectasia (MacTel) type 2 is observed in patients in their 5th–8th decades of life. The clinical and imaging findings in younger patients is unknown in larger cohorts. The study purpose is to report prevalence, baseline clinical and spectral domain optical coherence tomography (SDOCT) findings in young MacTel patients below 40 years. Methods: This hospital-based, multicentre, retrospective, cross-sectional study included patients between 2011 and 2023. Retinal photographs from multiple imaging techniques were evaluated to diagnose and stage type 2 MacTel and describe their SDOCT findings. Imaging characteristics were correlated with clinical stages and visual acuity. Results: Among all MacTel patients seen in hospital, prevalence of young MacTel cases less than age 40 was 1.77% (32/1806; 62 eyes). Youngest participant was 34 years, while mean age was 38.44 ± 1.795 years. Sixteen patients (50%) were diabetics. Perifoveal greying (n = 56, 90%) and perifoveal hyperreflective middle retinal layers (n = 47, 76%) were the most prevalent clinical and SDOCT imaging finding respectively. Less than 10% (n = 6) eyes had proliferative disease. Presence of retinal pigment clumps (RPC) (7% vs. 67%; p = 0.002) coincided with proliferative MacTel. Poor vision was associated with presence of outer retinal layer SDOCT findings like outward bending of inner retinal layers (p = 0.047), RPC (p = 0.007), subfoveal neurosensory detachment (p = 0.048) and subretinal neovascular membrane (p = 0.001). Conclusion: Type 2 MacTel before age 40 is rare, common in women and diabetics, and affects vision in advanced stage. Disease symmetry, comparison with older cases, and longitudinal SDOCT changes in such patients require further study. [ABSTRACT FROM AUTHOR]

Abstract Background We report an otherwise healthy adult with macular telangiectasia with aneurysms, ischemia, and obliterated capillaries in both eyes. Methods This is a case report with a brief literature review. Case presentation A 58-year-old Iranian woman presented with a gradual decrease in vision, with recent deterioration. Past medical history was unremarkable, and best-corrected visual acuity was 3/10 in both eyes. Multimodal imaging including fundus photo, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography was carried out. In macula of both eyes, parafoveal telangiectasia, occluded vessels, capillary dropouts, and aneurysms were observed. While there were a dense circinate exudation and edema in the macula of the right eye and a thin and disorganized inner retinal layer in the left eye, the outer retina was intact in both eyes. En face optical coherence tomography angiography revealed capillary blunting and rarefaction in both superficial and deep capillary plexuses of retina. Conclusion Our case most probably represents a case of type 3 macular telangiectasia in the absence of any systemic association.

Introduction: Drug-induced crystalline maculopathy has been reported secondary to tamoxifen use for breast cancer treatment. It could be misdiagnosed as macular telangiectasia type 2 (MacTel type 2). Case Report: A 56-year-old woman with a history of diabetes mellitus and breast cancer was referred to our clinic with painless, bilateral, gradual onset of central vision loss for several months. The fundus examination showed the macular pigmentary change in both eyes and a few refractile crystalline deposits in the parafoveal area in the left eye. However, the rest of the retina was normal in both eyes. Management and Outcome: With the diagnosis of tamoxifen-induced maculopathy, the drug was discontinued and supplementary treatment was started. Discussion: In this report, patient medical and drug history was an important and powerful measure. Due to the side effects of long-term use of tamoxifen, we need further studies on the need for retinal screening in these patients. [ABSTRACT FROM AUTHOR]

Objectives: The non-essential amino acids serine, glycine, and alanine, as well as diverse sphingolipid species, are implicated in inherited neuro-retinal disorders and are metabolically linked by serine palmitoyltransferase (SPT), a key enzyme in membrane lipid biogenesis. To gain insight into the pathophysiological mechanisms linking these pathways to neuro-retinal diseases we compared patients diagnosed with two metabolically intertwined diseases: macular telangiectasia type II (MacTel), hereditary sensory autonomic neuropathy type 1 (HSAN1), or both. Methods: We performed targeted metabolomic analyses of amino acids and broad sphingolipids in sera from a cohort of MacTel (205), HSAN1 (25) and Control (151) participants. Results: MacTel patients exhibited broad alterations of amino acids, including changes in serine, glycine, alanine, glutamate, and branched-chain amino acids reminiscent of diabetes. MacTel patients had elevated 1-deoxysphingolipids but reduced levels of complex sphingolipids in circulation. A mouse model of retinopathy indicates dietary serine and glycine restriction can drive this depletion in complex sphingolipids. HSAN1 patients exhibited elevated serine, lower alanine, and a reduction in canonical ceramides and sphingomyelins compared to controls. Those patients diagnosed with both HSAN1 and MacTel showed the most significant decrease in circulating sphingomyelins. Conclusions: These results highlight metabolic distinctions between MacTel and HSAN1, emphasize the importance of membrane lipids in the progression of MacTel, and suggest distinct therapeutic approaches for these two neurodegenerative diseases.

Abstract Purpose To correlate the structural-vascular-functional changes in type 2 non-proliferative macular telangiectasia (MacTel) using optical coherence tomography (OCT) angiography (OCTA). Methods In this retrospective study, OCTA and enface OCT image analysis of eyes with confirmed diagnosis of non-proliferative type 2 MacTel was performed. The ‘MacTel area’ was calculated by marking the outer boundary of an area affected by MacTel on superficial (SCP) and deep capillary plexus (DCP) on OCTA images and photoreceptor layer (PRL) on enface OCT scan. At every follow-up OCTA scan visit, best-corrected visual acuity, MacTel area and stage of disease was documented. Analyses between disease stage, MacTel area and logMAR visual acuity was carried out. Results In total, 38 single-visit OCTA scans of 22 patients were included. The mean age was 58.9 ± 10.98 years. An increase in disease severity stage correlated positively with MacTel area in SCP segmentations slab (r = 0.334; p = 0.04) and logMAR visual acuity (r = 0.338; p = 0.038). No correlation in the DCP area or PRL area (p > 0.05) was noted with disease stage. A statistically significant positive correlation was noted between the structural changes in PRL layer with vascular changes in SCP (p = 0.021) but not in DCP (p = 0.199). No correlation of visual acuity with changes in SCP, DCP or PRL was noted (p > 0.05). Conclusion OCTA is a useful adjunct for determining disease severity in type 2 non-proliferative MacTel by assessing the structural-vascular changes. Further longitudinal studies need to be considered in future for understanding the pathomechanism of retinal damage in type 2 MacTel.

Abstract Background The purpose of this study was to evaluate visual acuity after cataract surgery in eyes with Macular Telangiectasia (MacTel) Type 2. Methods Single-center retrospective cohort study of patients with MacTel Type 2 who underwent cataract surgery and were managed at the same institution. Patients underwent pre-operative assessment by a retinal specialist with examination and optical coherence tomography (OCT) at the same institution. The main outcome measure was the post-operative change in best corrected visual acuity (BCVA). Secondary study outcomes were achieving post-operative BCVA better than Snellen acuity of 20/40 and time to BCVA loss by two lines or more (10 or more ETDRS letters). Results A total of 20 eyes (11 patients) underwent cataract surgery and were followed for a median of 25.5 months (IQR 17.5–44.2 months). The median post-operative BCVA improvement was 10.5 letters (IQR 3.50–20.25). Nuclear sclerosis severity [β = 8.99 (95% CI 3.35, 14.6), p = 0.00177] was associated with post-operative change in BCVA and central foveal ellipsoid zone (EZ) breaks [OR 1.33 × 10–9 (95% CI 5.12 × 10–10–3.43 × 10−9), p 20/40 using a multivariate generalized linear model. Central foveal EZ breaks [HR 1.77 × 109 (95% CI 3.86 × 108, 8.11 × 109), p

Similar to ultrasound adapting soundwaves to depict the inner structures and tissues, optical coherence tomography (OCT) utilizes low coherence light waves to assess characteristics in the eye. Compared to the previous gold standard diagnostic imaging fluorescein angiography, OCT is a noninvasive imaging modality that generates images of ocular tissues at a rapid speed. Two commonly used iterations of OCT include spectral-domain (SD) and swept-source (SS). Each comes with different wavelengths and tissue penetration capacities. OCT angiography (OCTA) is a functional extension of the OCT. It generates a large number of pixels to capture the tissue and underlying blood flow. This allows OCTA to measure ischemia and demarcation of the vasculature in a wide range of conditions. This review focused on the study of four commonly encountered diseases involving the retina including age-related macular degeneration (AMD), diabetic retinopathy (DR), central serous chorioretinopathy (CSC), and macular telangiectasia (MacTel). Modern imaging techniques including SD-OCT, TD-OCT, SS-OCT, and OCTA assist with understanding the disease pathogenesis and natural history of disease progression, in addition to routine diagnosis and management in the clinical setting. Finally, this review compares each imaging technique's limitations and potential refinements. [ABSTRACT FROM AUTHOR]

Objectives:To compare best corrected visual acuity (BCVA), central macular thickness (CMT), and central choroidal thickness (CCT) in patients with type 2 macular telangiectasia (MacTel 2) and a control group and to evaluate the efficacy of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment in MacTel 2 patients with macular neovascularization (MNV).Materials and Methods:We conducted a retrospective chart review of consecutive MacTel 2 patients who underwent a full ophthalmologic examination including BCVA and dilated fundus examination with slit-lamp biomicroscopy, fluorescein angiography, and optical coherence tomography imaging at baseline and follow-up visits. BCVA, CMT, and CCT were compared between all identified patients (n=26) and a control group (n=30). A subgroup analysis was performed among eyes with MNV (n=7) before and after treatment.Results:CMT and CCT were significantly lower in the MacTel 2 group compared to the control group. Forty-one treatment-naive eyes without MNV proliferation showed no significant change in BCVA, CMT, or CCT during follow-up. Eight eyes of 7 MacTel 2 patients developed MNV during follow-up. All of the patients were treated with intravitreal anti-VEGF.Conclusion:It is important to closely follow MacTel 2 patients for MNV development. To avoid adverse effects, we prefer to monitor patients who have not yet developed MNV. Patients with proliferative MacTel 2 with decreasing visual function may benefit from intravitreal anti-VEGF treatment.

Background: We report an otherwise healthy adult with macular telangiectasia with aneurysms, ischemia, and obliterated capillaries in both eyes.Methods: This is a case report with a brief literature review.Case Presentation: A 58-year-old Iranian woman presented with a gradual decrease in vision, with recent deterioration. Past medical history was unremarkable, and best-corrected visual acuity was 3/10 in both eyes. Multimodal imaging including fundus photo, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography was carried out. In macula of both eyes, parafoveal telangiectasia, occluded vessels, capillary dropouts, and aneurysms were observed. While there were a dense circinate exudation and edema in the macula of the right eye and a thin and disorganized inner retinal layer in the left eye, the outer retina was intact in both eyes. En face optical coherence tomography angiography revealed capillary blunting and rarefaction in both superficial and deep capillary plexuses of retina.Conclusion: Our case most probably represents a case of type 3 macular telangiectasia in the absence of any systemic association. [ABSTRACT FROM AUTHOR]

Purpose: Down syndrome (DS) is one of the most prevalent genetic diseases associated with a variety of ophthalmic disorders, including reported retinal abnormalities. Macular telangiectasia type 2 (MacTel 2) is a late-onset neurodegenerative retinal disease with a substantial genetic component. We hereby describe a case of a female with DS who presented with MacTel 2, and we discuss the possible pathways associating both entities., Observation: We report the case of a 49-year-old female with a medical history of DS and hydroxychloroquine (HCQ) intake. She was referred for HCQ retinal toxicity screening. The multimodal imaging revealed a temporal perifoveal gray area with crystal deposits on multicolor fundoscopy with parafoveal outer retinal atrophy and ellipsoid zone loss with inner retinal cavitations in both eyes on the optical Coherence Tomography (OCT) B scan. The corresponding swept-source OCT angiography confirmed the presence of bilateral macular telangiectasia., Conclusion and Importance: Metabolic pathways including serine/glycine and sphingolipids are incriminated in both entities' pathogenesis suggesting a possible association, hence, the importance of raising awareness of this association. More cases are likely to be found since DS patients currently have a nearly normal lifespan. Additional retinal examination of DS adults is then necessary to look for signs of MacTel 2., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier Inc.)

Purpose: To correlate the structural-vascular-functional changes in type 2 non-proliferative macular telangiectasia (MacTel) using optical coherence tomography (OCT) angiography (OCTA). Methods: In this retrospective study, OCTA and enface OCT image analysis of eyes with confirmed diagnosis of non-proliferative type 2 MacTel was performed. The 'MacTel area' was calculated by marking the outer boundary of an area affected by MacTel on superficial (SCP) and deep capillary plexus (DCP) on OCTA images and photoreceptor layer (PRL) on enface OCT scan. At every follow-up OCTA scan visit, best-corrected visual acuity, MacTel area and stage of disease was documented. Analyses between disease stage, MacTel area and logMAR visual acuity was carried out. Results: In total, 38 single-visit OCTA scans of 22 patients were included. The mean age was 58.9 ± 10.98 years. An increase in disease severity stage correlated positively with MacTel area in SCP segmentations slab (r = 0.334; p = 0.04) and logMAR visual acuity (r = 0.338; p = 0.038). No correlation in the DCP area or PRL area (p > 0.05) was noted with disease stage. A statistically significant positive correlation was noted between the structural changes in PRL layer with vascular changes in SCP (p = 0.021) but not in DCP (p = 0.199). No correlation of visual acuity with changes in SCP, DCP or PRL was noted (p > 0.05). Conclusion: OCTA is a useful adjunct for determining disease severity in type 2 non-proliferative MacTel by assessing the structural-vascular changes. Further longitudinal studies need to be considered in future for understanding the pathomechanism of retinal damage in type 2 MacTel. [ABSTRACT FROM AUTHOR]

Macular telangiectasia Type 2 (MacTel) is a bilateral acquired retinal disease characterized by both vascular changes and atrophy of the retina. The purpose of this case series is to highlight the use of optical coherence tomography angiography (OCTA) as a non-invasive imaging modality to distinguish atypical MacTel from other macular conditions with similar presentations. We performed a retrospective review of patients referred to our academic retinal practice with unconfirmed or misdiagnosed MacTel between July 2017 and July 2021. Patients' OCTA imaging findings were reviewed to guide the appropriate diagnosis and management of atypical MacTel. Fifteen eyes from eight patients were included in this study. Six patients were referred with previous diagnoses of either full-thickness macular hole, lamellar hole, vitreomacular traction (VMT), postoperative cystoid macular edema (CME), or diabetic macular edema (DME). Two patients were referred to us to confirm the diagnosis of MacTel. OCTA revealed telangiectatic vessels in the temporal parafovea of all 15 eyes. OCTA also highlighted previously undiagnosed subretinal neovascularization (SRNV) in seven eyes. OCTA imaging is a valuable imaging modality to distinguish MacTel from other macular conditions, whose treatment courses vary substantially. Due to its ease of use, it holds immense potential in the future as treatments for non-proliferative MacTel emerge. [ABSTRACT FROM AUTHOR]

Background: The purpose of this study was to evaluate visual acuity after cataract surgery in eyes with Macular Telangiectasia (MacTel) Type 2. Methods: Single-center retrospective cohort study of patients with MacTel Type 2 who underwent cataract surgery and were managed at the same institution. Patients underwent pre-operative assessment by a retinal specialist with examination and optical coherence tomography (OCT) at the same institution. The main outcome measure was the post-operative change in best corrected visual acuity (BCVA). Secondary study outcomes were achieving post-operative BCVA better than Snellen acuity of 20/40 and time to BCVA loss by two lines or more (10 or more ETDRS letters). Results: A total of 20 eyes (11 patients) underwent cataract surgery and were followed for a median of 25.5 months (IQR 17.5–44.2 months). The median post-operative BCVA improvement was 10.5 letters (IQR 3.50–20.25). Nuclear sclerosis severity [β = 8.99 (95% CI 3.35, 14.6), p = 0.00177] was associated with post-operative change in BCVA and central foveal ellipsoid zone (EZ) breaks [OR 1.33 × 10–9 (95% CI 5.12 × 10–10–3.43 × 10−9), p < 0.001] on OCT was inversely correlated with post-operative BCVA > 20/40 using a multivariate generalized linear model. Central foveal EZ breaks [HR 1.77 × 109 (95% CI 3.86 × 108, 8.11 × 109), p < 0.001] and MacTel Type 2 disease stage [HR 2.83, (95% CI 1.12, 7.12), p = 0.027] were independently associated with shorter time to vision loss of two lines or more in a multivariate Cox regression model. Conclusions: Visual acuity significant improved after cataract surgery in eyes with MacTel Type 2 regardless of disease severity. The presence of central foveal EZ breaks may predict poorer post-operative visual acuity and subsequent vision loss from disease progression. [ABSTRACT FROM AUTHOR]

Tyler A Berger,1 Matthew W Manry,1,2 Lucas B Lindsell,1,2 James M Osher,1,2 Daniel M Miller,1,2 Robert E Foster,1,2 Christopher D Riemann,1,2 Michael R Petersen,1,2 Robert A Sisk1– 3 1Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA; 2Cincinnati Eye Institute, Cincinnati, OH, USA; 3Abrahamson Pediatric Eye Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USACorrespondence: Robert A SiskCincinnati Eye Institute, 1945 CEI Drive, Cincinnati, OH, 45242, USAFax +1 513-569-3904Email rsisk@cvphealth.comPurpose: To evaluate if off-label Age-Related Eye Disease Study 2 (AREDS2) supplementation prevents visual and anatomical deterioration in non-proliferative Idiopathic Macular Telangiectasia Type 2 (IMT2).Patients and Methods: This is a single-center retrospective, comparative study of 82 IMT2 eyes treated with AREDS2 from January 1st, 2013 to January 1st, 2018. The study analysis consisted of a non-comparative arm, which included all AREDS2 eyes, and a comparative arm (27 AREDS2 and 42 untreated eyes) that only included eyes with complete follow-up data. Eyes were evaluated at baseline, 12 and 24 months. Better/worse eye sub-analysis was performed in the comparative study arm. Primary outcomes were best corrected visual acuity (BCVA) and optical coherence tomography (OCT) anatomical characteristics including largest cavitation diameter, central macular thickness (CMT), and length of ellipsoid zone (EZ) loss at 24 months.Results: In the non-comparative arm, AREDS2 eyes showed stable BCVA (0.28 ± 0.18 logMAR at baseline vs 0.26 ± 0.19 logMAR at 24 months; p = 0.35) and OCT anatomical features after 24 months of supplementation. In the comparative arm, BCVA mean difference was greater for untreated eyes at 24 months (− 0.09 ± 0.15 vs 0.03 ± 0.11 logMAR; p = < 0.001). AREDS2 eyes had decreased cavitary diameter and EZ loss compared to untreated eyes at the study endpoint (p = 0.01 and p = 0.02, respectively). CMT remained stable for both cohorts throughout the study. For better/worse eye analysis, untreated eyes had worse BCVA at 24 months in both better and worse eyes (both p = 0.01). For anatomical outcomes, increases in both EZ loss (p = 0.04) and cavitary diameter (p = 0.001) among untreated eyes were only significant for eyes with worse baseline BCVA.Conclusion: Our results suggest that off-label AREDS2 supplementation in non-proliferative IMT2 may prevent anatomical and visual deterioration in a subset of eyes.Keywords: antioxidant, AREDS2, carotenoid supplementation, ellipsoid zone loss, lutein, idiopathic macular telangiectasia, macular telangiectasia, juxtafoveal macular telangiectasia, parafoveal telangiectasia, retinal vascular disease

Purpose: To visualize the mode of action of anti-vascular endothelial growth factor (anti-VEGFs) therapy on retinal neovascularization (RNV) in a patient with macular telangiectasia (MacTel) type 2 using a detailed three-dimensional data environment. Observation: A 60-year-old man presented with visual acuity loss and was diagnosed with MacTel type 2. Fluorescein angiography was not possible for safety reasons because of a history of severe reaction to fluorescein dye at his referring hospital. Optical coherence tomography angiography (OCTA) imaging revealed new retinal neovascular membranes (RNV) in the macula of both eyes. A marked reduction in the size of the RNV in both eyes was evident on volume-rendered three-dimensional OCTA retinal imaging after the first anti-VEGF injection. Conclusion and importance: The ability to directly observe the effect of anti-VEGF injections on a RNV using three-dimensional OCTA was successfully demonstrated. This can be useful in patients with previous allergic and potentially lethal complications to fluorescein. In addition, enhanced three-dimensional spatial display of RNV leads to a greater understanding of the perfusion profile and the anatomical changes that occur in ocular neovascularization relative to surrounding tissue. This has the potential to provide insight into the pathobiology of angiogenesis.

Objectives: To compare best corrected visual acuity (BCVA), central macular thickness (CMT), and central choroidal thickness (CCT) in patients with type 2 macular telangiectasia (MacTel 2) and a control group and to evaluate the efficacy of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment in MacTel 2 patients with macular neovascularization (MNV). Materials and Methods: We conducted a retrospective chart review of consecutive MacTel 2 patients who underwent a full ophthalmologic examination including BCVA and dilated fundus examination with slit-lamp biomicroscopy, fluorescein angiography, and optical coherence tomography imaging at baseline and follow-up visits. BCVA, CMT, and CCT were compared between all identified patients (n=26) and a control group (n=30). A subgroup analysis was performed among eyes with MNV (n=7) before and after treatment. Results: CMT and CCT were significantly lower in the MacTel 2 group compared to the control group. Forty-one treatment-naive eyes without MNV proliferation showed no significant change in BCVA, CMT, or CCT during follow-up. Eight eyes of 7 MacTel 2 patients developed MNV during follow-up. All of the patients were treated with intravitreal anti-VEGF. Conclusion: It is important to closely follow MacTel 2 patients for MNV development. To avoid adverse effects, we prefer to monitor patients who have not yet developed MNV. Patients with proliferative MacTel 2 with decreasing visual function may benefit from intravitreal anti-VEGF treatment. [ABSTRACT FROM AUTHOR]

Purpose: To study clinical and imaging features of various stages of macular telangiectasia (MacTel type 2). Methods: In this retrospective study, cases of MacTel type 2 with fluorescein angiography (FA), optical coherence tomography (OCT) and OCT-angiography (OCTA) imaging were included. Based on angiographic perifoveal fluorescence, two groups were formed: group 1: diffuse hyperfluoroscence and group 2: diffuse + focal hyperfluoroscence. Later, based on OCT features, group 2 was subdivided into group 2A: without SRNVM and group 2B: with SRNVM. Clinical, FA, OCT and OCTA features were analysed. Eyes showing conversion to the proliferative stage at final visit were noted. Results: Ninety-four eyes of 48 patients were included. Group 1 (n = 28) showed diffuse perifoveal hyperfluoroscence, hyperreflective middle retinal layers, absent SRNVM (p = 0.006) on OCT and dilated perifoveal capillaries in deep capillary plexus (DCP) on OCTA. Group 2A (n = 40) showed diffuse + focal perifoveal hyperfluoroscence, hyperreflective middle retinal layers (p = 0.001), hyporeflective outer retina cavities (p = 0.021), absent SRNVM with dilated and bunching perifoveal capillaries (p = 0.004) in DCP. Group 2B (n = 26) showed late diffuse + focal perifoveal hyperfluoroscence, foveal contour irregularity (p = 0.002), retinal pigment clumps (p = 0.015) and SRNVM on OCT with bunching of capillaries in DCP and vessels in outer retina (p = 0.002). Five eyes showed conversion to group 2B at final visit. Conclusion: There exists a distinct disease stage called "preproliferative" MacTel type 2 showing clinical features of non-proliferative disease, diffuse + focal perifoveal hyperfluoroscence on FA, absent SRNVM on OCT and bunching perifoveal capillaries in DCP on OCTA. Its identification is important for suspecting proliferative disease, planning management and follow-up visit accordingly. [ABSTRACT FROM AUTHOR]

Abstract Background Internal limiting membrane (ILM) drape sign is an important OCT characteristic of Macular telangiectasia type 2 (MacTel 2). Described here is a case where masking of the ILM drape sign occurred with bilateral foveal detachments in a patient with MacTel 2. Case presentation A 64-year old female was diagnosed with MacTel 2, four years prior to the current presentation on the basis of an OCT demonstrating bilateral ILM drape sign. Fluorescein angiography showed bilateral dilated, ectatic capillaries and late phase dye leak. At the current presentation there was bilateral gradual visual impairment over two months due to bilateral foveal detachments. Treatment with intravitreal Bevacizumab resulted in unmasking of the pre-existing ILM drape sign at 12 weeks. Visual acuity was reduced to counting fingers in the left eye with the neovascular membrane as a consequence of sub-retinal fibrosis, while the right eye maintained a vision of 6/12. A difference in the stage of the disease at presentation determined the long-term visual outcome after seven years of observation. Conclusion Foveal detachment can influence the OCT detectability of pre-existing foveal cystoid lesions. Visual prognosis at the final follow up was consistent with the interocular disparity of the disease stage at presentation.

Similar to ultrasound adapting soundwaves to depict the inner structures and tissues, optical coherence tomography (OCT) utilizes low coherence light waves to assess characteristics in the eye. Compared to the previous gold standard diagnostic imaging fluorescein angiography, OCT is a noninvasive imaging modality that generates images of ocular tissues at a rapid speed. Two commonly used iterations of OCT include spectral-domain (SD) and swept-source (SS). Each comes with different wavelengths and tissue penetration capacities. OCT angiography (OCTA) is a functional extension of the OCT. It generates a large number of pixels to capture the tissue and underlying blood flow. This allows OCTA to measure ischemia and demarcation of the vasculature in a wide range of conditions. This review focused on the study of four commonly encountered diseases involving the retina including age-related macular degeneration (AMD), diabetic retinopathy (DR), central serous chorioretinopathy (CSC), and macular telangiectasia (MacTel). Modern imaging techniques including SD-OCT, TD-OCT, SS-OCT, and OCTA assist with understanding the disease pathogenesis and natural history of disease progression, in addition to routine diagnosis and management in the clinical setting. Finally, this review compares each imaging technique’s limitations and potential refinements.

Key messages: The pathogenesis of subretinal neovascularization (SRNV) due to macular telengiectasia (MacTel 2) has not fully elucidated. This optical coherence tomography (OCT)-based method can provide better understanding of the pathogenesis of SRNV due to MacTel 2. Purpose: To evaluate the choroidal vascular index (CVI) through optical coherence tomography (OCT) on eyes with proliferative macular telangiectasia type 2 (MacTel 2) or non-proliferative MacTel 2, and in healthy individuals. Methods: Macular enhanced depth imaging OCT scans on 42 eyes of 21 patients with non-proliferative MacTel 2, on 32 eyes of 20 patients with proliferative MacTel 2, and on 38 eyes of 32 control patients were analyzed by adjusting for age–gender–axial length. Proliferative MacTel 2 was diagnosed when subretinal neovascularization (SRNV) was simultaneously observed in the non-proliferative phase. Binarization methods of ImageJ software were used to analyze images, and total choroid area (TCA), luminal area (LA) and stromal area (SA) were obtained. CVI was characterized as the ratio of LA to TCA. Results: The mean TCA and SA were significantly higher in group 1 and group 2 when compared with group 3 (3.36 ± 0.29 mm2 vs. 3.27 ± 0.76 mm2 vs. 2.49 ± 0.24 mm2, p < 0.001; 1.15 ± 0.31 mm2 vs. 1.10 ± 0.69 mm2 vs. 0.35 ± 0.23 mm2, respectively; p < 0.001). Although LA was relatively higher in group 1 and group 2 than group 3, no statistically significant difference was observed (2.22 ± 0.14 mm2 vs. 2.17 ± 0.15 mm2 vs. 2.13 ± 0.21 mm2) (p = 0.088). CVI was significantly lower in group 1 than other groups (0.65 ± 0.01 vs 0.67 ± 0.02 vs 0.68 ± 0.02) (p < 0.001). Conclusion: As an OCT screening method, CVI may be used to assess the vascular status of the choroid on the eyes which are naive for or were exposed to SRNV secondary to MacTel 2, and to elucidate the pathogenesis of this disease. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate changes in the visualization of microaneurysms (MAs) in cases of macular telangiectasia (Mac Tel) type 1 on optical coherence tomography angiography (OCTA) before and after treatment with direct photocoagulation and to evaluate their relationship with treatment efficacy. Methods: The study included 12 eyes from 12 patients (8 men, 4 women; mean age 72.1 years) with Mac Tel type 1 accompanied by cystoid macular edema. OCTA for the evaluation of MAs was performed before and 15 min and 6, 12, and 24 weeks after photocoagulation. The best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were also evaluated. Results: A total of 73 MAs were detected within the areas of macular edema on OCTA, and 39 of these underwent photocoagulation. At 15 min after treatment, 17 MAs were no longer visible on OCTA. At 6 weeks, two MAs had reappeared, whereas five additional MAs were no longer visible. The CRT in eyes with resolved MA was significantly less than that in eyes with persistent MAs (p = 0.016). At 24 weeks, seven eyes had no visible MAs, and the BCVA was not significantly different from baseline. Conclusion: OCTA can monitor changes in the visualization of MAs associated with Mac Tel type 1 after direct photocoagulation. Eyes in which MAs disappeared after treatment could recover from cystoid macular edema. [ABSTRACT FROM AUTHOR]

Abstract Macular telangiectasia type 2 (MacTel) is a relatively rare disease without established treatments. Although MacTel was previously considered a primarily vascular condition, the thinking on its pathogenesis has shifted to it now being considered principally a neurodegenerative disease. This has resulted in a subsequent change in the approach to treatment toward neuro-protection for the non-proliferative phase of this disease. Carotenoid supplementation has had mixed results. Ciliary neurotrophic factor (CNTF) has demonstrated some promising early results, but further study is necessary to determine its actual effect. Some structural improvements have been seen in the non-proliferative phase with oral acetazolamide but without accompanying functional improvement. Anti-vascular endothelial drugs have been studied and not found to have benefit in the non-proliferative phase of disease but have demonstrated significant structural and functional value in the treatment of secondary neovascularization. There is no level I evidence for the various proposed MacTel treatments, and efforts need to be directed toward conducting multicenter randomized trials to better understand possible treatments for this condition.

Macular telangiectasia Type 2 (MacTel) is a bilateral acquired retinal disease characterized by both vascular changes and atrophy of the retina. The purpose of this case series is to highlight the use of optical coherence tomography angiography (OCTA) as a non-invasive imaging modality to distinguish atypical MacTel from other macular conditions with similar presentations. We performed a retrospective review of patients referred to our academic retinal practice with unconfirmed or misdiagnosed MacTel between July 2017 and July 2021. Patients’ OCTA imaging findings were reviewed to guide the appropriate diagnosis and management of atypical MacTel. Fifteen eyes from eight patients were included in this study. Six patients were referred with previous diagnoses of either full-thickness macular hole, lamellar hole, vitreomacular traction (VMT), postoperative cystoid macular edema (CME), or diabetic macular edema (DME). Two patients were referred to us to confirm the diagnosis of MacTel. OCTA revealed telangiectatic vessels in the temporal parafovea of all 15 eyes. OCTA also highlighted previously undiagnosed subretinal neovascularization (SRNV) in seven eyes. OCTA imaging is a valuable imaging modality to distinguish MacTel from other macular conditions, whose treatment courses vary substantially. Due to its ease of use, it holds immense potential in the future as treatments for non-proliferative MacTel emerge.

Background: While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challenge. Methods are needed to systematically bridge this crucial gap to facilitate experimental testing of hypotheses and translation to clinical utility. Results: Here, we leveraged cross-phenotype associations to identify traits with shared genetic architecture, using linkage disequilibrium (LD) information to accurately capture shared SNPs by proxy, and calculate significance of enrichment. This shared genetic architecture was examined across differing biological scales through incorporating data from catalogs of clinical, cellular, and molecular GWAS. We have created an interactive web database (interactive Cross-Phenotype Analysis of GWAS database (iCPAGdb)) to facilitate exploration and allow rapid analysis of user-uploaded GWAS summary statistics. This database revealed well-known relationships among phenotypes, as well as the generation of novel hypotheses to explain the pathophysiology of common diseases. Application of iCPAGdb to a recent GWAS of severe COVID-19 demonstrated unexpected overlap of GWAS signals between COVID-19 and human diseases, including with idiopathic pulmonary fibrosis driven by the DPP9 locus. Transcriptomics from peripheral blood of COVID-19 patients demonstrated that DPP9 was induced in SARS-CoV-2 compared to healthy controls or those with bacterial infection. Further investigation of cross-phenotype SNPs associated with both severe COVID-19 and other human traits demonstrated colocalization of the GWAS signal at the ABO locus with plasma protein levels of a reported receptor of SARS-CoV-2, CD209 (DC-SIGN). This finding points to a possible mechanism whereby glycosylation of CD209 by ABO may regulate COVID-19 disease severity. Conclusions: Thus, connecting genetically related traits across phenotypic scales links human diseases to molecular and cellular measurements that can reveal mechanisms and lead to novel biomarkers and therapeutic approaches. The iCPAGdb web portal is accessible at http://cpag.oit.duke.edu and the software code at https://github.com/tbalmat/iCPAGdb. [ABSTRACT FROM AUTHOR]

Background: To study the effect of anti-VEGFs in proliferative MacTel 2 Methods: Sixty-four eyes of 51 patients of MacTel 2 with subretinal neovascular membrane (SRNVM) undergoing intravitreal anti-VEGF monotherapy at our institution between January 2015 and December 2018 were evaluated for visual acuity, central macular thickness (CMT) and total macular volume (TMV) using optical coherence tomography (OCT). Repeat investigations were performed at the final follow-up. Results: Location of SRNVM was foveal (F) in 65.6% eyes and extrafoveal (EF) in 34.4% eyes. Both CMT and TMV were lower significantly at baseline in EF-SRNVM. Fifty-six eyes received intravitreal bevacizumab and 8 eyes received ranibizumab. Average 2.14 ± 1.21 injections (range, 1–6) were administered. After a mean follow-up duration of 16.01 ± 12.96 months, the final visual acuity (VA) improved in 35.9% eyes, reduced in 28.1% and remained unchanged in 35.9% eyes. Significant improvement of VA was seen in F-SRNVM; however, overall, there was no significant improvement in visual acuity. Significant reduction in CMT was seen in F-SRNVM from 391.73 ± 152.45 μm to 293.33 ± 114.77 μm (p < 0.05) while EF-SRNVM did not show significant reduction. Total macular volume overall changed significantly from 8.79 ± 1.69 to 8.05 ± 1.27 (p < 0.05) and individually in F- and EF-SRNVM (p < 0.05). Intravitreal bevacizumab and ranibizumab monotherapy both had similar efficacy. Conclusions: Anti-VEGF agents can be successfully used to treat proliferative MacTels. Macular volume measurement on OCT may be a useful parameter for evaluating EF-SRNVM and as a prognostic marker of management outcomes. [ABSTRACT FROM AUTHOR]

Purpose: This study explores autologous neurosensory autograph for a patient with a chronic full-thickness macular hole (FTMH) and idiopathic macular telangiectasia type 2 (IMT2). Observations: The patient had a chronic 1355 μm FTMH and best corrected visual acuity (BCVA) of 2 logMAR units after two unsuccessful attempts to close the macular hole. Following a 25-gauge vitrectomy, a 2-disc diameter neurosensory autograft from the supertemporal retina was mobilized and secured with perfluoro-N-octane (PFO) tamponade. After being postured supine for one week, the PFO was exchanged for silicone oil. Two months later, silicone oil was exchanged for 20% sulphur hexafluoride (SF6). Conclusions and importance: The graft achieved anatomical and functional success with BCVA of 0.6 logMAR units. This case supports autologous neurosensory autograph as a technique for achieving closure of chronic macular holes refractory to conventional treatment.

Crystalline deposits and neurosensory retinal cavitary changes can develop in both tamoxifen retinopathy and nonproliferative idiopathic macular telangiectasia type 2 (MacTel2). MacTel2 is typically differentiated from tamoxifen retinopathy based on the presence of late leakage and mid-phase telangiectatic vessels on fluorescein angiography (FA) and the presence of hyperautofluorescence. Unlike MacTel2, tamoxifen retinopathy is known to be a progressive disease and the cessation of tamoxifen results in resolution of retinopathy. We report a unique case of nonproliferative MacTel2 in a 36-year-old Hispanic woman with tamoxifen use and the vision outcome 30 months after cessation of tamoxifen. The FA and optical coherence tomography angiography findings of this patient support the diagnosis of MacTel2, but her cessation of tamoxifen led to partial reversal of the topographic findings and improvement in visual acuity. This patient is also unique in the unusually young age of presentation for MacTel2. Our case supports that there are common pathways in the pathogenesis of tamoxifen retinopathy and MacTel2, and tamoxifen use could potentially accelerate foveal atrophy in patients with MacTel2.

Purpose: To describe various clinical features of idiopathic juxtafoveal retinal telangiectasis group 2A or idiopathic macular telangiectasia type 2 (MacTel) on multicolor imaging (MCI) and compare imaging findings of MacTel on MCI with fundus autofluorescence (FAF). Methods: Patients with a clinical diagnosis of MacTel based on Gass and Blodi's classification were included. FAF and MCI images were graded qualitatively for stage of disease, margins of involvement, hyperautofluorescence on FAF (corresponding retinal atrophy on MCI), and detection of crystals. FAF and MCI were graded quantitatively for the area and number of quadrants involved, hypoautofluorescene on FAF (corresponding intraretinal pigment hyperplasia or retinal pigment epithelium [RPE] atrophy on MCI), and foci of right-angled venules. Results: Seventy-eight eyes of forty five patients were included with both imaging modalities showing no difference with respect to staging of non-proliferative MacTel. Retinal crystals were recognized on MCI but not on FAF. Neurosensory retinal atrophy and subretinal neovascular membranes were detected using MCI with 92.3 and 83.3% sensitivity, respectively. Intraretinal pigmented hyperplasia was more accurately detected (70.1 vs 58.4%) compared with RPE atrophy on MCI. MCI showed larger area of involvement, higher number of quadrants involved (p < 0.001), and better delineation of margins (p = 0.002) compared with FAF. A higher mean number of vessel dipping foci was noted on MCI in comparison with FAF (3.34 vs 3.1). Conclusion: Various parameters were more easily defined using MCI compared with FAF which qualifies MCI as an enface depth-resolved imaging adjunct to conventional multimodal imaging in MacTel. The ability to detect enface as well as cross-sectional imaging features makes MCI a valuable tool in MacTel. [ABSTRACT FROM AUTHOR]

Purpose: To document with spectral-domain optical coherence tomography the structural stabilization of the fovea and the sealing of outer macular defects by Müller cells. Methods: A retrospective case series of 45 eyes of 34 patients is described. Results: In cases of a cystic disruption of the foveola as in macular telangiectasia type 2 and vitreomacular traction, the Müller cell cone provides the structural stability of the fovea. In cases of a detachment or disruption of the Müller cell cone, e.g., in foveal pseudocysts, outer lamellar holes, and degenerative and tractional lamellar holes, Müller cells of the foveal walls may provide the structural stability of the fovea by the formation of a hyperreflective external limiting membrane (ELM) which bridges the holes in the central outer nuclear layer (ONL). Müller cells of the foveal walls and parafovea mediate the regeneration of the foveal architecture in cases of outer lamellar and full-thickness macular holes. The regeneration proceeds by a centripetal displacement of photoreceptor cell somata which closes the holes in the central ONL. The closure may be supported by the formation of a glial tissue band at the ELM which seals the hole. Conclusions: The Müller cell cone provides the foveal stability in cases of a cystic disruption of the foveola. The structural stability of the outer foveal layers is mainly provided by the Müller cells of the foveal walls and parafovea; these cells also mediate the regeneration of the outer fovea in cases of a defect of the central ONL. [ABSTRACT FROM AUTHOR]

Purpose: To describe a case of a 68-year-old man with macular telangiectasia (MacTel) Type 1 in the right eye, showing an increase in capillary ischemia after intravitreal ranibizumab. Methods: The patient underwent complete ophthalmologic evaluation, including best corrected visual acuity, intraocular pressure, anterior segment and fundus examination, optical coherence tomography (OCT), and OCT angiography at baseline and on each visit. Fluorescein angiography was performed at baseline. The patient was followed up on monthly bases for 22 months. Results: The patient presented a best-corrected visual acuity of 20/80 in the right eye and of 20/25 in the left eye at baseline. In the right eye, the fluorescein angiography images showed perifoveal capillary ectasia, late-frames dye leakage, and enlargement of the foveal avascular zone. The OCT showed intraretinal pseudocysts and microaneurysms, and the OCT angiography showed vascular rarefaction, capillary dropout, and capillary ectasia of the superficial plexus. After 16 months of follow-up and four ranibizumab injections, the best-corrected visual acuity was 20/60, and the OCT angiography disclosed a further enlargement of the foveal avascular zone area and increased capillary obliteration in the perifoveal nasal area. Conclusion: Optical coherence tomography angiography may represent an indispensable diagnostic technique, complementary to traditional imaging, in the evaluation of the effects of anti–vascular endothelial growth factor therapy in patients with MacTel Type 1. [ABSTRACT FROM AUTHOR]

Background: Internal limiting membrane (ILM) drape sign is an important OCT characteristic of Macular telangiectasia type 2 (MacTel 2). Described here is a case where masking of the ILM drape sign occurred with bilateral foveal detachments in a patient with MacTel 2.Case Presentation: A 64-year old female was diagnosed with MacTel 2, four years prior to the current presentation on the basis of an OCT demonstrating bilateral ILM drape sign. Fluorescein angiography showed bilateral dilated, ectatic capillaries and late phase dye leak. At the current presentation there was bilateral gradual visual impairment over two months due to bilateral foveal detachments. Treatment with intravitreal Bevacizumab resulted in unmasking of the pre-existing ILM drape sign at 12 weeks. Visual acuity was reduced to counting fingers in the left eye with the neovascular membrane as a consequence of sub-retinal fibrosis, while the right eye maintained a vision of 6/12. A difference in the stage of the disease at presentation determined the long-term visual outcome after seven years of observation.Conclusion: Foveal detachment can influence the OCT detectability of pre-existing foveal cystoid lesions. Visual prognosis at the final follow up was consistent with the interocular disparity of the disease stage at presentation. [ABSTRACT FROM AUTHOR]

Purpose: To compare subfoveal choroidal thickness (SFCT) in eyes with non-proliferative macular telangiectasia (MacTel) type 2 with or without subretinal neovascularization (SRNV) and healthy control eyes. Methods: Consecutive patients with non-proliferative and proliferative MacTel type 2 were included in the current study. For comparisons subjects with no ocular pathology were recruited and used as controls. Best corrected visual acuity (BCVA), central macular thickness (CMT), and subfoveal choroidal thickness (SFCT) were evaluated. Since axial length (AL) may affect choroidal thickness, AL measurements were performed to avoid confusion in SFCT between the groups. Results: Of the 63 eyes of 38 MacTel type 2 patients, 38 eyes had only MacTel type 2 (group 1) and 25 eyes had SRNV caused by MacTel type 2 (group 2). Fourty eyes of 20 subjects served as controls (group 3). BCVA was found to be significantly higher in control group compared with group 1 and group 2 (p <.005). Whereas, no difference was detected between group 1 and group 2 (p =.75). No difference was noted in CMT between the groups (p =.35). Axial length measurement was very similar among all three groups (p =.62). After adjusting for age and axial length SFCT was significantly thinner in group 3 than the other groups (p <.001), but no statistically significant difference was found between group 1 and group 2. Conclusions: Choroidal thickness did not vary between eyes with MacTel type 2 with SRNV and without SRNV. Choroid was significantly thicker in MacTel type 2 with SRNV and without SRNV than healthy eyes. [ABSTRACT FROM AUTHOR]

• Photodynamic therapy (PDT) is a vaso-occlusive treatment for a number of chorioretinal vascular pathologies. • PDT works through the formation of free radicals causing cellular damage and thrombosis of the vessels with minimal adjacent tissue damage. • Different doses of verteporfin and laser fluence may be utilised with lower doses and fluence offering an improved safety profile. • PDT resulted in excellent visual and anatomical outcomes in central serous retinopathy, even at safety enhanced half-verteporfin doses and half-laser fluence levels. Photodynamic therapy (PDT) is a vaso-occlusive treatment for a number of chorioretinal vascular pathologies. We aimed to retrospectively analyse efficiency and safety of PDT for different conditions (central serous retinopathy (CSR), age-related macular degeneration (AMD), macular telangiectasia type 2 and choroidal hemangioma) and with different verteporfin parameters. Clinical parameters were ascertained from the medical records of patients undergoing PDT over a 6-year period. This included indications for PDT, dosing regimens of verteporfin PDT (which includes treatment dose of verteporfin and fluence). Response to treatment was measured by best corrected visual acuity (BCVA) and central foveal thickness (CFT) on ocular coherence tomography. Complications and side effects were recorded. 67.4 % (31/46) of PDT treatments performed over the last six years were for CSR. In the CSR cohort, there were significant improvements in BCVA (0.47 ± 0.24 to 0.29 ± 0.27, p < 0.05) and CFT (350.2μm ± 66.9 μm to 286.1μm ± 60.6 μm. In the AMD cohort, there was no change in BCVA (1.08 ± 0.52 to 1.07 ± 0.53, p = 0.96) but significant improvement in CFT (488.2μm ± 164.6 μm to 348.7μm ± 65.7 μm, p < 0.05). There was no significant difference in BCVA or CFT for macular telangiectasia type 2 and choroidal hemangioma. PDT continues to have a role in the management of medical retina conditions. Our results show PDT is most effective in improving and stabilizing visual acuity in CSR, with earlier intervention resulting in better outcomes. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the clinical characteristics of perifoveal exudative vascular anomalous complex (PEVAC) in Korean patients. Methods: This retrospective study included 8 eyes (8 patients) diagnosed with PEVAC. Demographic characteristics of the patients, fundus photography, optical coherence tomography (OCT), fluorescein angiography, and indocyanine-green angiography (ICGA) findings were analyzed. Available follow-up data were also reviewed. Results: The mean ± standard deviation age was 61.0 ± 11.0 years and mean logarithm of minimal angle of resolution (logMAR) best-corrected visual acuity was 0.15 ± 0.14. PEVAC was noted in 2 eyes with coincident age-related macular degeneration (AMD) and in the fellow eye of 1 eye with unilateral type 3 neovascularization. On fundus photography, PEVAC presented as a perifoveal isolated aneurysm associated with retinal exudation and hemorrhage. Well-defined hyperfluorescent lesions with leakage were noted on fluorescein angiography, but no leakage was observed on ICGA. Anti-vascular endothelial growth factor (VEGF) therapy was performed for 2 patients. However, there was no notable improvement after treatment. Conclusions: The clinical characteristics of PEVAC in Korean patients were similar to those reported in patients of other ethnicities. Further studies are needed to better understand the nature of this newly described clinical entity. [ABSTRACT FROM AUTHOR]

Macular telangiectasia type 2 (MacTel) is a relatively rare disease without established treatments. Although MacTel was previously considered a primarily vascular condition, the thinking on its pathogenesis has shifted to it now being considered principally a neurodegenerative disease. This has resulted in a subsequent change in the approach to treatment toward neuro-protection for the non-proliferative phase of this disease. Carotenoid supplementation has had mixed results. Ciliary neurotrophic factor (CNTF) has demonstrated some promising early results, but further study is necessary to determine its actual effect. Some structural improvements have been seen in the non-proliferative phase with oral acetazolamide but without accompanying functional improvement. Anti-vascular endothelial drugs have been studied and not found to have benefit in the non-proliferative phase of disease but have demonstrated significant structural and functional value in the treatment of secondary neovascularization. There is no level I evidence for the various proposed MacTel treatments, and efforts need to be directed toward conducting multicenter randomized trials to better understand possible treatments for this condition. [ABSTRACT FROM AUTHOR]

Macular telangiectasia type 2 (Mac Tel 2) is a bilateral disease of unknown cause with characteristic changes of the retinal vasculature. To the best of our knowledge, we could not find any reported cases of Mac Tel 2 with retinal arterial macroaneurysm (RAM). Our aim is to report a case of Mac Tel 2 with RAM. [ABSTRACT FROM AUTHOR]

Importance Idiopathic Macular Telangiectasia Type 2 (MacTel) is an uncommon, progressive retinal disease usually affecting both eyes. Currently there is no know treatment however with similar comorbidities to Obstructive Sleep Apnoea (OSA) there is plausibility of an association which may accelerate disease progression. Background: To identify an association between MacTel and OSA and whether OSA may result in increased disease progression. Design Matched case–control study and retrospective cohort analysis. Participants: Fifty‐seven patients with MacTel and 165 matched controls from the Busselton Health Study. Methods: MacTel participants were matched based on age, gender and body mass index (BMI) (and where possible hypertension and diabetes) on a 3:1 ratio with controls from the Busselton Health Study. Participants undertook a sleep questionnaire using a previously validated questionnaire. In a subset sleep apnoea severity was objectively measured via overnight ambulatory polygraphy (30 cases and 83 matched controls; ApneaLink device; ResMed, Sydney, Australia). In a retrospective analysis of the suspected MacTel cases we assessed whether major markers of OSA severity and MacTel progression were associated. Main Outcome Measures: Apnoea Hypopnea Index along with key markers of MacTel progression. Results: MacTel patients did not have a higher risk of sleep apnoea when compared to age, sex and BMI ‐matched controls (mean ± SD Apnoea hypopnea index [AHI] cases 9.6 ± 14.7 vs. controls 9.7 ± 10.8, P = 0.95). No markers of disease progression in the cases were associated with any marker of OSA severity. Conclusions and Relevance: Sleep apnoea does not increase the risk or accelerate the progression of MacTel. [ABSTRACT FROM AUTHOR]

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In the past, the importance of serine to pathologic or physiologic anomalies was inadequately addressed. Omics research has significantly advanced in the last two decades, and metabolomic data of various tissues has finally brought serine metabolism to the forefront of metabolic research, primarily for its varied role throughout the central nervous system. The retina is one of the most complex neuronal tissues with a multitude of functions. Although recent studies have highlighted the importance of free serine and its derivatives to retinal homeostasis, currently few reviews exist that comprehensively analyze the topic. Here, we address this gap by emphasizing how and why the de novo production and demand for serine is exceptionally elevated in the retina. Many basic physiological functions of the retina require serine. Serine-derived sphingolipids and phosphatidylserine for phagocytosis by the retinal pigment epithelium (RPE) and neuronal crosstalk of the inner retina via D-serine require proper serine metabolism. Moreover, serine is involved in sphingolipid−ceramide balance for both the outer retina and the RPE and the reductive currency generation for the RPE via serine biosynthesis. Finally and perhaps the most vital part of serine metabolism is free radical scavenging in the entire retina via serine-derived scavengers like glycine and GSH. It is hard to imagine that a single tissue could have such a broad and extensive dependency on serine homeostasis. Any dysregulation in serine mechanisms can result in a wide spectrum of retinopathies. Therefore, most critically, this review provides a strong argument for the exploration of serine-based clinical interventions for retinal pathologies.