Evaluating the Progression of Retinal Sensitivity Loss in Geographic Atrophy Using Machine-Learning-Based Structure-Function Correlation (OMEGA 2).

Purpose: The purpose of this study was to evaluate the effectiveness of different machine-learning models in predicting retinal sensitivity in geographic atrophy (GA) secondary to age-related macular degeneration (AMD) and compare the progression of sensitivity loss using observed versus inferred data over time.

Methods: Thirty patients with GA (37 eyes) were recruited for the OMEGA study. Participants underwent fundus-controlled perimetry (microperimetry) and spectral-domain optical coherence tomography (SD-OCT) imaging at baseline and follow-up visits at weeks 12, 24, and 48.

[Ocular alterations in pseudoxanthoma elasticum : The eye as a window to diagnosing a systemic disease].

Pseudoxanthoma elasticum (PXE) is an autosomal-recessive multisystem disease characterized by elastic fiber calcification in the skin, the cardiovascular system, and eyes. PXE is caused by biallelic mutations in the ABCC6 gene on chromosome 16, resulting in low inorganic pyrophosphate plasma levels. Typical ocular manifestations result from calcification of Bruch's membrane and include peau d'orange, angioid streaks, and comet-tail lesions.

Geographic atrophy: Understanding the relationship between structure and function.

Purpose: This review explores the complex relationship between anatomical alterations and functional consequences in geographic atrophy (GA), the advanced non-neovascular form of age-related macular degeneration. We examine the natural history, progression patterns, structural biomarkers, functional assessments, and structure-function correlations in GA.

Methods: Experts contributed specialized knowledge on GA pathophysiology, imaging biomarkers, and functional assessment methods.

Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.

Introduction: The aim of the study was to report the phenotype and progression pattern of RP1 retinitis pigmentosa carrying the variant c.2613dupA (p.Arg872Thrfs*2).

Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.

Purpose: To determine the prevalence and spatial pattern of rod and cone dysfunction in patients with pseudoxanthoma elasticum (PXE) and to correlate these with Bruch's membrane (BrM) calcification. PXE is a rare genetic disorder that causes calcification of Bruch's membrane, which eventually leads to loss of central vision. Understanding the functional implications of BrM calcification is crucial for developing effective treatments.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Multicenter Normative Data for Mesopic Microperimetry.

Purpose: The purpose of this study was to provide a large, multi-center normative dataset for the Macular Integrity Assessment (MAIA) microperimeter and compare the goodness-of-fit and prediction interval calibration-error for a panel of hill-of-vision models.

Methods: Microperimetry examinations of healthy eyes from five independent study groups and one previously available dataset were included (1137 tests from 531 eyes of 432 participants [223 women and 209 men]). Linear mixed models (LMMs) were fitted to the data to obtain interpretable hill-of-vision models.

The Optical Coherence Tomography and Microperimetry Biomarker Evaluation in Patients with Geographic Atrophy (OMEGA) Study: Design and Baseline Characteristics - OMEGA Report 1.

Introduction: The aim of this study was to describe the design and the participants' baseline characteristics of a prospective natural history study of geographic atrophy (GA) secondary to age-related macular degeneration.

Methods: The optical coherence tomography (OCT) and microperimetry biomarker evaluation in patients with GA (OMEGA) study was conducted at a tertiary referral center (ClinicalTrials.gov identifier: NCT05963646).