Optometria: Acesso Aberto

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Integrated Approach to Inherited Eye Diseases: A Multidisciplinary Ophthalmic Genetics Clinic and its Impact on Diagnosis and Management

Holly Frost

Advancements in genetic testing and our understanding of inherited eye diseases have highlighted the importance of a multidisciplinary approach to ophthalmic care. This research article describes the design and outcomes of a novel multidisciplinary ophthalmic genetics clinic aimed at providing comprehensive evaluation, genetic testing, and personalized management for patients with inherited eye disorders. By combining the expertise of ophthalmologists, geneticists, genetic counselors, and other healthcare professionals, this clinic offers an integrated approach to patient care, resulting in improved genetic diagnosis, optimized treatment strategies, and enhanced patient outcomes. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.