Retinal dystrophies, or inherited retinal diseases (IRD), represent diverse genetic conditions affecting the retina, including rod-cone dystrophies, cone-rod dystrophies, chorioretinal degenerations, and macular dystrophies. These disorders are characterized by a gradual loss of vision, ranging from night blindness and color vision deficiencies to complete blindness in advanced cases. More than 270 genes have been linked to various retinal dystrophy types, with clinical presentations varying even among family members with the same mutation. Diagnosis involves detailed patient history, fundoscopic examination, genetic analysis, retinal imaging, electrophysiological tests, and advanced imaging techniques. While no cure has been identified, treatments like gene therapy approved for specific conditions, retinal prostheses, and low-vision aids aim to enhance patients’ quality of life. Supportive care, genetic counseling, and psychological support play essential roles in managing these progressive disorders. This activity for healthcare professionals is designed to enhance the learner’s competence in recognizing the spectrum of retinal dystrophies, performing the recommended evaluation, and implementing an appropriate interprofessional management approach to improve patient outcomes.
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