Developing a Continuous Severity Scale for Macular Telangiectasia Type 2 Using Deep Learning and Implications for Disease Grading.

Purpose: Deep learning (DL) models have achieved state-of-the-art medical diagnosis classification accuracy. Current models are limited by discrete diagnosis labels, but could yield more information with diagnosis in a continuous scale. We developed a novel continuous severity scaling system for macular telangiectasia (MacTel) type 2 by combining a DL classification model with uniform manifold approximation and projection (UMAP).

A Novel Role for Corneal Pachymetry in Planning Cataract Surgery by Determining Changes in Spherical Equivalent Resulting from a Previous LASIK Treatment.

Objectives: To provide a metric to differentiate between hyperopic and myopic ablation of a prior LASIK treatment based on the corneal pachymetry profile after laser vision correction (LVC).

Methods: Pachymetry data were retrospectively recovered from patients who had previous LASIK for refractive purposes between 2019 and 2020. Patients with any corneal disorder were excluded.

Macular Telangiectasia Type 2: A Classification System Using MultiModal Imaging MacTel Project Report Number 10.

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.

Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.

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, has been described in some patients with HSN1. This study aims to further investigate this association in a cohort of people with HSN1.

Effect of ethnicity and other sociodemographic factors on attendance at diabetic eye screening: a 12-month retrospective cohort study.

Objectives: To examine the association of sociodemographic characteristics with attendance at diabetic eye screening in a large ethnically diverse urban population.

Design: Retrospective cohort study.

Setting: Screening visits in the North East London Diabetic Eye Screening Programme (NELDESP).

Fundus Autofluorescence Imaging in Macular Telangiectasia Type 2: MacTel Study Report Number 9.

Purpose: To investigate the role of fundus autofluorescence (FAF) imaging in the diagnosis of macular telangiectasia type 2 (MacTel) and to describe disease-associated FAF patterns and their origin.

Design: Cross-sectional multicenter study METHODS: FAF images were collected from the multicenter MacTel Natural History Observation and Registry Study. In a first qualitative approach, common FAF phenotypes were defined and correlated with multimodal imaging.

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a genome-wide association study on 1,067 MacTel patients and 3,799 controls, which identified eight novel genome-wide significant loci (p < 5 × 10), and confirmed all three previously reported loci. Using MAGMA, eQTL and transcriptome-wide association analysis, we prioritised 48 genes implicated in serine-glycine biosynthesis, metabolite transport, and retinal vasculature and thickness.

HYPERREFLECTIVITY ON OPTICAL COHERENCE TOMOGRAPHY IN MACULAR TELANGIECTASIA TYPE 2.

Purpose: To define, characterize, and classify hyperreflectivity on optical coherence tomography and report its prevalence in macular telangiectasia Type 2.

Methods: In a primary cross-sectional analysis, multimodal imaging data were retrospectively analyzed. The definition of hyperreflectivity and neovascularization on optical coherence tomography followed optical coherence tomography angiography-based criteria.

Quantification of Key Retinal Features in Early and Late Age-Related Macular Degeneration Using Deep Learning.

Purpose: We sought to develop and validate a deep learning model for segmentation of 13 features associated with neovascular and atrophic age-related macular degeneration (AMD).

Design: Development and validation of a deep-learning model for feature segmentation.

Methods: Data for model development were obtained from 307 optical coherence tomography volumes.

Contextualizing single-arm trials with real-world data: An emulated target trial comparing therapies for neovascular age-related macular degeneration.

One-in-four ophthalmology trials are single-armed, which poses challenges to their interpretation. We demonstrate how real-world cohorts used as external/synthetic control arms can contextualize such trials. We herein emulated a target trial on the intention-to-treat efficacy of off-label bevacizumab (q6w) pro re nata relative to fixed-interval aflibercept (q8w) for improving week 54 visual acuity of eyes affected by neovascular age-related macular degeneration.

WITHDRAWN: Hyper-reflectivity on optical coherence tomography in macular telangiectasia type 2.

Ahead of Print article withdrawn by publisher.

[Artificial intelligence in ophthalmology : Guidelines for physicians for the critical evaluation of studies].

Background: Empirical models have been an integral part of everyday clinical practice in ophthalmology since the introduction of the Sanders-Retzlaff-Kraff (SRK) formula. Recent developments in the field of statistical learning (artificial intelligence, AI) now enable an empirical approach to a wide range of ophthalmological questions with an unprecedented precision.

Objective: Which criteria must be considered for the evaluation of AI-related studies in ophthalmology?

Material And Methods: Exemplary prediction of visual acuity (continuous outcome) and classification of healthy and diseased eyes (discrete outcome) using retrospectively compiled optical coherence tomography data (50 eyes of 50 patients, 50 healthy eyes of 50 subjects).

Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2.

Purpose: To determine the extent of remnant cone structure within early foveal ellipsoid zone (EZ) lesions in macular telangiectasia type 2 longitudinally using both confocal and split detector adaptive optics scanning light ophthalmoscopy (AOSLO).

Methods: Spectral domain optical coherence tomography (SDOCT), confocal and split detector AOSLO were acquired from seven patients (10 eyes) with small (early) EZ lesions on SDOCT secondary to macular telangiectasia type 2 at baseline, 6 months, and 12 months. The presence of cone structure on AOSLO in areas of EZ loss as well as cones at 1° eccentricity, and their change over time were quantified.

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.

Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown, and no treatment is currently available. A previous study found variants in genes associated with glycine-serine metabolism (PSPH, PHGDH and CPS1) to be associated with MacTel, and showed low levels of glycine and serine in the serum of MacTel patients.

Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area: MacTel Project Report Number 8.

Purpose: To report the visual acuity measures from the macular telangiectasia type 2 (MacTel) registry and to investigate and describe phenotypic findings in eyes with substantial vision loss resulting from MacTel.

Design: Cross-sectional multicenter study.

Participants: Participants in the MacTel Natural History Observation Registration Study.

Effect of Face-Down Positioning vs Support-the-Break Positioning After Macula-Involving Retinal Detachment Repair: The PostRD Randomized Clinical Trial.

Importance: A lack of consensus exists with regard to the optimal positioning regimen for patients after macula-involving retinal detachment (RD) repair.

Objective: To evaluate the effect of face-down positioning vs support-the-break positioning on retinal displacement and distortion after macula-involving RD repair.

Design, Setting, And Participants: A prospective 6-month single-masked randomized clinical trial was conducted at a multicenter tertiary referral setting from May 16, 2016, to May 1, 2018.

Novel biomarker of sphericity and cylindricity indices in volume-rendering optical coherence tomography angiography in normal and diabetic eyes: a preliminary study.

Purpose: Preliminary to evaluate geometric indices (vessel sphericity and cylindricity) for volume-rendered optical coherence tomography angiography (OCTA) in healthy and diabetic eyes.

Methods: Twenty-six eyes of 13 healthy subjects and 12 eyes of patients with central ischemic, non-proliferative diabetic retinopathy were included. OCTA volume and surface area of the foveal vessels were measured and compared to determine OCTA sphericity and cylindricity indices and surface efficiency (SE).

Postretinal Detachment Retinal Displacement: How Best to Detect It?

Purpose: The reported incidence of postretinal detachment (RD) macular displacement varies markedly (14-72%). This may in part be due to the imaging modalities used. We compared the ability of 2 types of fundus autofluorescence (FAF) imaging modalities to detect this phenomenon.

DARK ADAPTATION IN MACULAR TELANGIECTASIA TYPE 2.

Purpose: To evaluate dark adaptation (DA) in patients with macular telangiectasia Type 2 (MacTel).

Methods: After a local photobleach (4 × 4° size, 83% bleach), DA was measured using a test stimulus (2° diameter) projected at 5° eccentricity horizontal from the foveal center within the temporal parafovea. Cone plateau, rod intercept time, and rod recovery rate (S2) were calculated from the resulting DA curves.

Binocular Inhibition of Reading in Macular Telangiectasia Type 2.

Purpose: To assess the presence of binocular gain in macular telangiectasia type 2 (MacTel) and its correlation to paracentral scotomas.

Methods: Sixty-eight patients with MacTel were consecutively recruited for a cross-sectional analysis. Best-corrected visual acuity (BCVA), reading acuity, and reading speed were tested monocularly and binocularly.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

Background: Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism has been established previously.

Methods: Through exome sequence analysis of a patient with macular telangiectasia type 2 and his family members, we identified a variant in encoding a subunit of serine palmitoyltransferase (SPT).

Validation of automated artificial intelligence segmentation of optical coherence tomography images.

Purpose: To benchmark the human and machine performance of spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT) image segmentation, i.e., pixel-wise classification, for the compartments vitreous, retina, choroid, sclera.

Quantification of Retinal and Choriocapillaris Perfusion in Different Stages of Macular Telangiectasia Type 2.

Purpose: To quantify the retinal and choriocapillaris perfusion in different disease stages of macular telangiectasia type 2 (MacTel) using optical coherence tomography-angiography (OCT-A).

Methods: We examined 76 eyes of 76 patients and 24 eyes of 24 age-related controls. Participants underwent multimodal imaging, including OCT and OCT-A.

High-Resolution In Vivo Fundus Angiography using a Nonadaptive Optics Imaging System.

Purpose: We provide a proof of concept for the detailed characterization of retinal capillary features and surrounding photoreceptor mosaic using a customized nonadaptive optics angiography imaging system.

Methods: High-resolution fluorescein angiography (FFA) and/or indocyanine green angiography (ICGA) images were obtained using a modified Heidelberg retina angiograph (HRA2) device with a reduced scan angle enabling 3° field of view. Colocalized images of the photoreceptor mosaic also were captured in vivo using the same instrument.