Monitoring disease progression in retinitis pigmentosa

Danial Roshandel

doi:10.26182/jwbb-ex90

Monitoring disease progression in retinitis pigmentosa

Danial Roshandel

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Thesis › Doctoral Thesis

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Abstract

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 language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Chen, Fred, Supervisor Mackey, David, Supervisor McLenachan, Sam, Supervisor Charng, Jason, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	5 Jul 2022
DOIs	https://doi.org/10.26182/jwbb-ex90
Publication status	Unpublished - 2022

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10.26182/jwbb-ex90

THESIS - DOCTOR OF PHILOSOPHY - ROSHANDEL, Danial - 2022
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5 Article

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis
Roshandel, D., Sampson, D. M., Mackey, D. A. & Chen, F. K., 1 Apr 2022, In: Investigative Ophthalmology and Visual Science. 63, 4, 2778762.
Research output: Contribution to journal › Article › peer-review

Open Access
7 Citations (Scopus)
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
Roshandel, D., Thompson, J. A., Jeffery, R. C. H., Zhang, D., Lamey, T. M., McLaren, T. L., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jun 2021, In: Genes. 12, 6, 915.
Research output: Contribution to journal › Article › peer-review

Open Access
8 Citations (Scopus)
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
Roshandel, D., Thompson, J. A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M. S., Lamey, T. M., McLaren, T. L., De Roach, J. N., Mackey, D. A., Wilton, S. D., Fletcher, S., McLenachan, S. & Chen, F., 2021, In: Ophthalmic Genetics. 42, 1, p. 1-14 14 p.
Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus)

Cite this

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title = "Monitoring disease progression in retinitis pigmentosa",

abstract = "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.",

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AB - 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.

KW - retinitis pigmentosa

KW - natural history

KW - trial endpoint

KW - multimodal imaging

KW - adaptive optics

KW - microperimetry

U2 - 10.26182/jwbb-ex90

DO - 10.26182/jwbb-ex90

M3 - Doctoral Thesis

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Monitoring disease progression in retinitis pigmentosa

Abstract

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Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

Cite this