Monitoring disease progression in retinitis pigmentosa

Research output: ThesisDoctoral Thesis

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Retinitis pigmentosa (RP) is the most common form of inherited blindness. The aim of this thesis was to investigate genotype-phenotype correlations, natural history, and endpoints for monitoring disease progression in RP. Adaptive optics imaging detected cone loss in asymptomatic patients with CRB1- and RPGR-associated retinopathies and disease progression over a6-month period in patients with rod-cone dystrophy. Residual ellipsoid zone span and hyperautofluorescent ring area detected disease progression over 2-year follow up in patients with PRPF31-associated retinopathy. Perifoveal-to-foveal retinal volume ratio was useful for quantifying retinal thickening in CRB1-associated retinopathy. Our findings have significant implications for future studies in RP.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
  • Chen, Fred, Supervisor
  • Mackey, David, Supervisor
  • McLenachan, Sam, Supervisor
  • Charng, Jason, Supervisor
Thesis sponsors
Award date5 Jul 2022
Publication statusUnpublished - 2022


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