Inherited retinal degenerations: clinical phenotypes and emerging therapies

Abstract

Inherited retinal degenerations are a diverse group of genetic disorders that result in progressive vision loss. Advances in genetic testing have revealed pathogenic variants in hundreds of genes, reflecting the remarkable heterogeneity of these conditions and pointing to the complexity of the developmental and homoeostatic processes needed for a lifetime of good vision. This Review summarises the clinical presentation of inherited retinal degenerations, outlines broad disease categories based on the primary type of retinal cell affected, and highlights novel treatment approaches including gene, cell, optogenetic, and implantable chip therapies. Prompt referral of patients to eye care professionals is essential for early and accurate diagnoses, coordinated care, and optimal visual outcomes.