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OverviewDefinitionA genetic disorder affecting the retina, the light-sensitiv...

OverviewDefinitionA genetic disorder affecting the retina, the light-sensitive tissue lining the back of the eyeCauseInherited genetic mutations that lead to progressive degeneration of retinal cellsSymptomsNight blindness, peripheral vision loss, and eventual central vision lossPathophysiologyPhotoreceptor Degenerationrods and cones affected, leading to vision lossRetinal Pigment Epithelium (RPE) Dysfunctioncritical for photoreceptor health and maintenanceProgressive Naturesymptoms worsen over time, affecting central visionDiagnosisFunduscopyvisual inspection of the retinaGenetic Testingto confirm diagnosis and identify specific mutationElectroretinogram (ERG)measures electrical activity of the retinaManagementLow-Vision Aidsto enhance remaining visionGenetic Counselingfor families with a history of RPResearch Trialspotential new treatments under investigationOutlookProgressive Diseasecurrently incurable, but symptoms can be managedResearch Progressongoing research aims to develop new treatmentsGenetic Testing Importancefor early diagnosis and family planningConclusionRetinal Pigment Degeneration is a debilitating genetic disorder affecting vision. Although currently incurable, early diagnosis and management can help patients cope with symptoms and maintain their quality of life. Genetic testing and genetic counseling play a crucial role in the management of RP, and ongoing research offers hope for future treatments.