ABSTRACT
Family pedigrees allow for a more thorough understanding of human genetic disorders. They are used to help establish patterns of inheritance and to identify individuals at risk of disease. Pedigree analysis can be helpful in identifying genetic disorders that demonstrate mechanisms such autosomal dominant or recessive inheritance, X-linked inheritance, and anticipation.
Subject(s)
Retinitis Pigmentosa , Humans , Retinitis Pigmentosa/geneticsABSTRACT
Ocular gene therapy represents an emerging and promising therapeutic approach for the treatment of several of the inherited retinal diseases. Currently, the focus has been to investigate monogenic inherited retinal disorders. Genetic and cellular therapies can be delivered to the eye by various injection techniques, including those that are intravitreal, subretinal, and suprachoroidal. Each of these three delivery methods are discussed with regard to their historical background, indications, surgical steps, and follow-up.