45th Annual Frank D. Costenbader Lecture
Strides & Challenges in the Diagnosis, Classification & Treatment of Childhood Retinal Dystrophies
Elias I. Traboulsi, MD, MEd
Cole Eye Institute
Cleveland Clinic Foundation
Introduction: The recognition of clinical manifestations of inherited infantile and childhood retinal dystrophies, combined with the appropriate diagnostic tests, remains the mainstay of their diagnosis. This presentation attempts to clarify the current approaches to diagnosing, classifying and managing children with inherited retinal disorders.
Methods: Review of the current literature and personal experience of the presenter.
Discussion: Advances in molecular diagnostic technology have allowed precise genetic diagnosis in a majority of cases and have paved the way to a broader classification scheme in which a blur has emerged between clinical diagnostic entities that at one time were better defined. Genetic heterogeneity has become the rule as more genes are recognized to cause the same phenotype and more mutations in the same gene to cause different clinical disorders. Finally, a better understanding of the underlying molecular mechanisms in childhood retinal disorders and advances in biotechnology have brought novel therapies very close and into the clinic.
Conclusion: The ophthalmic community is updating its approach to diagnosing and classifying childhood retinal dystrophies and is preparing for their treatment.