Clinical characteristics and management of retinitis pigmentosa
Abstract
Retinitis pigmentosa is a collective term for a group of inherited retinal dystrophies characterized by loss of rod photoreceptors, followed by loss of cone photoreceptors. It is a disease with a variable clinical and genetic presentation, with regards to age at onset, severity, and disease progression. For many patients, no treatment is available at the moment, but promising advances are made in genomic medicine. In preparation for these novel therapies, this thesis focuses on the clinical characteristics and natural course of candidate genes, in order to define optimal clinical endpoints. Additionally, this thesis investigates current treatment modalities, as retinitis pigmentosa is associated with ocular comorbidities such as cataract and cystoid macular edema, which can significantly impact a patient's quality of life when left untreated.
