Clinical characteristics and management of retinitis pigmentosa

Nguyen, X.T. (2024)

Doctoral Thesis

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.

• Retinitis pigmentosa
• Inherited retinal dystrophies
• Gene therapy
• Rod-cone dystrophy
• Medical retina
• Natural history studies

• All authors: Nguyen, X.T.
• Supervisor: Boon, C.J.F.
• Co-supervisor: Wijnholds, J.
• Committee: Jager, M.J.; Maarel, S.M. van der; Moll, A.C.; Fischer, M.D.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2024-01-23
• ISBN (print): 9789464835489
• Sponsorship: The research presented in this thesis was financially supported by Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB), Landelijke Stichting voor Blinden en Slechtzienden (LSBS), and the Oogfonds, which contributed through UitZicht (Delft, the Netherlands); as well as the Curing Retinal Blindness Foundation, Stichting Blindenhulp, Bontius Stichting, and Retina Fonds. Financial support for the printing of this thesis was kindly provided by Chipsoft, D.O.R.C., Landelijke Stichting voor Blinden en Slechtzienden, Medical Workshop BV, Oculenti Contactlenspraktijken, Revoir/Ergra Low vision, Santen Pharmaceutical, Stichting Blindenhulp, Stichting Leids Oogheelkundig Ondersteuningsfonds, Synda Medical, Théa Pharma BV, Universitaire Bibliotheken Leiden.