Geographic atrophy: where we are now and where we are going.

PURPOSE OF REVIEW: Age-related macular degeneration (AMD) affects a significant percentage of the elderly population and end-stage disease classified by either geographic atrophy (GA) or neovascular AMD (nvAMD) is one of the leading causes of vision loss worldwide. Despite the fact that there are currently treatments for nvAMD, there are no treatments in practice to prevent disease onset or progression of GA. This topic is at the forefront of ophthalmic research demonstrated by the recent advances in disease characterization, genetic and environmental risk factor classification, biomarker discovery and mechanism of pathogenesis categorization. There are also numerous clinical treatment trials underway, targeting proposed pathways and biomarkers associated with GA that are promising. RECENT FINDINGS: With several clinical trials of potential treatments underway and numerous recent publications on disease diagnosis and classification, the understanding of GA pathogenesis has increased substantially. Although the exact mechanism of pathology is still elusive, recent literature has highlighted the utilization of current and new ophthalmic imaging modalities and discovery of objective and functional markers that can lead to earlier diagnosis and treatment. SUMMARY: Herein, we will provide an overview and discussion of the current status of GA including advances in mechanism of pathogenesis, diagnosis, classification and current treatment modalities.

Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.

The authors describe identical twin sisters with similar symptoms, fundus findings, and ophthalmic testing consistent with retinitis punctata albescens (RPA). The pathognomonic white retinal flecks, extensive midperipheral retinal pigment epithelium atrophy, and pigmentary changes demonstrate overlapping phenotypic properties of RPA and other inherited retinal degenerative diseases. Genetic testing confirmed two mutations of the RLBP1 gene: one pathogenic for RPA, and the other a variant of uncertain significance previously reported as a novel RPA mutation in the literature. This report highlights identical phenotypic findings and genetic mutations in twin sisters aiding in further classification of pathogenic mutations associated with RPA. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:450-453.].