Retinitis pigmentosa-associated cystoid macular oedema

Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales, of which Retinitis Pigmentosa (RP) is the most common disorder. One complication of RP includes cystoid macular oedema (CMO), causing a reduction of central vision. This thesis begins by reviewing retinal anatomy, retinal function and the visual cycle. It provides a description of the most common inherited retinal disorders (IRD) together with an update on structural, functional and molecular assessment of IRD. The possible underlying causes of RP-associated CMO (RPCMO) are explored, including: 1) Breakdown of the blood-retinal barrier, 2) Failure (or dysfunction) of the pumping mechanism of the retinal pigment epithelium (RPE), 3) Muller cell oedema and dysfunction, 4) Anti-retinal antibodies, and 5) Vitreous traction. Current methods for the diagnosis and monitoring of RP-CMO are discussed. A literature review of all treatments attempted to date will be provided, including: oral and topical carbonic anhydrase inhibitors, oral, topical, intravitreal and periocular steroids, topical non-steroidal anti-inflammatory medications, photocoagulation, vitrectomy with internal limiting membrane peel, oral lutein, and intravitreal anti-vascular endothelial growth factor injections. Extensive explanation is provided regarding the clinical trial undertaken entitled ‘The AMOUR Study’, which stands for ‘Aflibercept for Macular Oedema in Underlying Retinitis Pigmentosa’. The purpose, methods, results and conclusion are provided. Extensive explanation is provided regarding a second retrospective study undertaken entitled ‘The CARAMEL Study’, which stands for ‘Carbonic Anhydrase inhibitors for Retinitis Pigmentosa And Macular oEdema in various Layers’. The purpose, methods, results and conclusion are provided. Everything is drawn together in the discussion and concluding remarks section, including a final chapter on future directions for the treatment of RP-CMO