Abstract
Childhood retinal dystrophies may be isolated or represent one sign of serious systemic diseases. Because of the variety of ways they manifest themselves, retinal dystrophies may be overlooked or misdiagnosed. A thorough patient history, family history, ophthalmologic examination, ancillary testing, and complete review of systems and physical examination are imperative to detect and to accurately diagnose disease. The diagnosis can be confirmed using genetic testing in a large proportion of cases. This chapter discusses a practical approach to the diagnosis and management of patients with a suspected retinal dystrophy and provides case examples of a few disorders. The reader is also referred to the chapter on genetic counseling in this book for additional discussion and other case examples.
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Schmitt, M.A., Traboulsi, E.I. (2016). Retinal Dystrophies: Clinical Work-Up and Selected Examples. In: Traboulsi, E., Utz, V. (eds) Practical Management of Pediatric Ocular Disorders and Strabismus. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2745-6_34
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DOI: https://doi.org/10.1007/978-1-4939-2745-6_34
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