[Advances in the molecular genetics of occult macular dystrophy].

Abstract

Occult macular dystrophy is an inherited macular disorder associated with cone degeneration. The characteristic clinical feature is decreased visual acuity despite a normal fundus appearance on ophthalmoscopy. Optical coherence tomography, infrared reflectance imaging, visual field testing, and multifocal electroretinography may detect structural and functional abnormalities in the macular region. This article reviews the latest advances in both domestic and international research, summarizing the clinical characteristics, pathogenic genes, genetic features, and molecular mechanisms, aiming to enhance clinical understanding of the disease and provide insights for further research and therapeutic exploration.