mactel

PURPOSE: To characterize relative arteriovenous connectivity of the healthy macula imaged by optical coherence tomography angiography (OCTA) using a new volumetric tool. METHODS: OCTA volumes were obtained for 20 healthy controls (20 eyes). Two graders identified superficial arterioles and venules. We implemented a custom watershed algorithm to identify capillaries most closely connected to arterioles and venules by using the large vessels as seeds to flood the vascular network...

Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a rare, late-onset degenerative retinal disease with an extremely heterogeneous genetic architecture, lending itself to the use of iPSCs. Whole-exome sequencing screens and pedigree analyses have identified rare causative mutations that account for less than 5% of cases. Metabolomic surveys of patient populations and GWAS have linked MacTel to decreased circulating levels of serine and elevated levels of neurotoxic 1-deoxysphingolipids (1-dSLs)...

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...

We report a case of a 62-year-old man who presented with blurred and distorted vision in both eyes. Fundus examination revealed a fibrous band-like membrane emanating from the disc to the foveal center in the right eye, aneurysmal gray parafoveal lesions in both eyes, and an inferotemporal peripheral vascular tumor in the right eye. The presence of an epiretinal membrane with vitreomacular traction in this patient has led to the diagnosis of an incidental peripheral vascular tumor. To our knowledge, there are no reports describing an association between macular telangiectasia type 2 and epiretinal membrane formation with vitreomacular traction due to a vasoproliferative tumor...

PURPOSE: To develop a severity classification for macular telangiectasia type 2 (MacTel) disease using multimodal imaging. DESIGN: An algorithm was used on data from a prospective natural history study of MacTel for classification development. SUBJECTS: A total of 1733 participants enrolled in an international natural history study of MacTel. METHODS: The Classification and Regression Trees (CART), a predictive nonparametric algorithm used in machine learning, analyzed the features of the multimodal imaging important for the development of a classification, including reading center gradings of the following digital images: stereoscopic color and red-free fundus photographs, fluorescein angiographic images, fundus autofluorescence images, and spectral-domain (SD)-OCT images...

BACKGROUND: To study the relation between interdigitation zone (IDZ) and right-angle vessel (RAV) in Macular Telangiectasia Type-2 (MacTel). METHODS: A total of 43 eyes of 38 patients with presence of definite RAV on colour fundus photograph (Gass and Blodi-only stage-3) were confirmed on multimodal imaging. The relation of IDZ changes and associated ellipsoid zone (EZ) alterations on spectral-domain optical coherence tomography (OCT) with RAV were studied at baseline and these OCT changes were followed up in 15 eyes over a mean of 3...

PURPOSE: To report a case demonstrating the relevance of ocular examination and retinal imaging timing in type 2 macular telangiectasia (MacTel). CASE DESCRIPTION: A 55-year-old-female complained of blurring of vision in the left eye for the last 6 months. Corrected visual acuity was 20/20, N6 and 20/30, N8 in the right and left eye respectively. Anterior segment examination was normal in both eyes. Her both eyes' fundus was seen initially by the general ophthalmologist and was subsequently referred to the retinal specialist...

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...

PURPOSE: To report characteristics of outer foveal defects (OFDs) in type-2 macular telangiectasia (MacTel) on spectral domain optical coherence tomography. METHODS: This was a single-center observational study. From a registry of 745 patients with MacTel, patients with OFDs were characterized. All patients underwent multimodal imaging including color fundus photography, confocal blue reflectance, fundus autofluorescence, and spectral domain optical coherence tomography...

PURPOSE: To determine brain-derived neurotrophic factor (BDNF) levels in the serum and aqueous humor (AH) and assess the relationship between BDNF levels and the thickness of the macular ganglion cell-inner plexiform layer (GCIPL) in macular telangiectasia type 2 (MacTel). METHODS: This study included 25 patients with MacTel (MacTel group) and 25 control subjects (control group). The levels of BDNF in the serum and AH were tested using an enzyme-binding immunosorbent assay...

PURPOSE: To report a case series of tamoxifen retinopathy (TR) with and without type 2 macular telangiectasia (MacTel) and compare their clinical and imaging findings. METHODS: Retrospective comparative study. Female patients with tamoxifen use or with clinical diagnosis of type 2 MacTel were divided into 4 groups: Group A-tamoxifen use without retinopathy; Group B-tamoxifen use with retinopathy; Group C-type 2 MacTel with tamoxifen use and Group D-type 2 MacTel without tamoxifen use...

Macular telangiectasia Type 2 (MacTel) is a gradually progressive disease that affects the quality of life by impairing both distant and near vision. It had previously been considered a vascular condition, but recent evidence suggests a neurodegenerative etiology, with primary involvement of Muller cells. Retinal pigment epithelium (RPE) hyperplasia and subretinal neovascularization (SNV) are responsible for most of the vision loss in advanced cases. Neurotrophic factors in the non-proliferative phase and intravitreal anti-Vascular Endothelial growth factor (VEGF) in the proliferative phase have shown to retard the progression of the disease...

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...

OBJECTIVES: To explore the features of black hyperpigmentation in macular telangiectasia (MacTel) type 2 and correlate these findings with the characteristics of hyperpigmented epiretinal membranes (ERMs) using multimodal imaging. METHODS: A case series of three patients with MacTel type 2 and hyperpigmented ERMs imaged with colour fundus photography, fluorescein angiography (FA), spectral-domain optical coherence tomography (OCT) and swept-source OCT angiography...

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...

PURPOSE: Tamoxifen-induced retinopathy (TR) and macular telangiectasia type 2 (MacTel) share a highly similar retinal phenotype. In this study, we aimed to evaluate differences and similarities that may point toward underlying mechanisms linking both disease entities. DESIGN: Retrospective, cross sectional study. SUBJECTS: Patients diagnosed with MacTel or TR. METHODS: Patients underwent multimodal retinal imaging, including color fundus photography, spectral-domain OCT, fundus autofluorescence, fluorescein angiography, and OCT angiography (if available)...

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...

BACKGROUND AND AIMS: Pathogenic variants in the genes encoding serine palmitoyl transferase (SPTLC1 or SPTLC2) are the most common causes of the rare peripheral nerve disorder Hereditary Sensory Neuropathy Type 1 (HSN1). Macular telangiectasia type 2 (MacTel), a retinal disorder associated with disordered serine-glycine metabolism and has been described in some patients with HSN1. This study aims to further investigate this association in a cohort of people with HSN1. METHODS: Fourteen patients with a clinically and genetically confirmed diagnosis of HSN1 from the National Hospital for Neurology and Neurosurgery (NHNN, University College London Hospitals NHS Foundation Trust, London, United Kingdom) were recruited to the MacTel Registry, between July 2018 and April 2019...

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...

BACKGROUND: To estimate macular pigment values in macular telangiectasia (MacTel) Type 2 in comparison with healthy subjects in the South Indian population across different spatial profiles and to quantify the regional differences of macular pigment optical density (MPOD) in MacTel Type 2. METHODS: In this prospective cross-sectional study, healthy controls and patients diagnosed with various stages of MacTel Type 2 underwent MPOD measurement using dual-wavelength autofluorescence technique with Spectralis HRA + OCT...