Genetic Testing Strategies in Inherited Retinal Diseases: Practical Aspects for Ophthalmologists

Abstract

Rapidly developing genetic testing methods has transformed the diagnostic process for inherited retinal diseases (IRDs). Besides, management options for IRDs are increasing including gene and stem cell therapies. In contrast to these rapidly evolving options for diagnosis or management, number of ophthalmologists specialized in genetic diseases or number of geneticists specialized in ophthalmological diseases are limited. Therefore, ophthalmologists should have a better understanding of genetic testing algorithms for proper management of patients with IRDs. This review provides the basic aspects of genetic testing strategies for ophthalmologists.