Evidence map›Paper›PMID 42168561›Full record

ReviewEye (London, England)2026

The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR.

Deborah Schofield, Joshua Kraindler, Rupendra N Shrestha, Owen Tan, Sarah West, Natalie Hart, Lauren Wall, Liny Tan, Dustin Hewett, Lorraine Villaret and 3 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Eye (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Deborah Schofield *GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Joshua Kraindler *GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia. Josh.kraindler@mq.edu.au.ORCID http://orcid.org/0000-0003-2103-6726
Rupendra N ShresthaGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Owen TanGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Sarah WestGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Natalie HartGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Lauren WallGenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.
Liny TanEye Genetics Research Unit, Sydney Children's Hospitals Network, Children's Medical Research Institute, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
Dustin HewettEye Genetics Research Unit, Sydney Children's Hospitals Network, Children's Medical Research Institute, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
Lorraine VillaretSpecialty of Ophthalmology, The University of Sydney, Sydney, NSW, Australia.
Alan MaEye Genetics Research Unit, Sydney Children's Hospitals Network, Children's Medical Research Institute, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
John R GriggEye Genetics Research Unit, Sydney Children's Hospitals Network, Children's Medical Research Institute, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-6763-8119
Robyn V JamiesonEye Genetics Research Unit, Sydney Children's Hospitals Network, Children's Medical Research Institute, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.

Funding

Department of Health | National Health and Medical Research Council (NHMRC) APP2027453
6 · The paper itself

Abstract

objectivesTo estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR.

methodsPrimary data were obtained from a clinical cohort of 9 patients with X-linked retinitis pigmentosa (XLRP) and 4 caregivers. Health-related quality of life (HRQoL) impacts for patients and carers are assessed using utility values derived from the Assessment of Quality of Life-8 Dimension (AQoL-8D) instrument. Lifetime costs associated with XLRP are estimated through microsimulation modelling. The model accounts for both societal and healthcare costs, capturing the economic burden on patients, caregivers and their spouses.

resultsAverage AQoL-8D utility values for patients with XLRP are 0.57, slightly lower than other inherited retinal diseases and significantly (p < 0.05) below age and gender adjusted population norms of 0.81. HUI2 and HUI3 values were 0.81 and 0.75, respectively. Lifetime costs for XLRP were AUD 7.0 m. Most costs (79%) were societal costs. Using a range of prevalence estimates, national annual costs are estimated to be between AUD 38.4 m and AUD 49.7 m.

conclusionXLRP imposes a substantial burden on quality of life and generates high societal costs relative to direct healthcare costs, consistent with patterns observed in other IRDs. The results highlight the importance of incorporating societal costs into cost-effectiveness analyses when assessing new interventions for individuals with XLRP, including genetic testing and emerging gene therapies.

Indexed as

Cost of IllnessEye ProteinsGenetic Diseases, X-LinkedHealth Care CostsQuality of LifeRetinitis PigmentosaAdolescentAdultCaregiversChildFemaleHumansMaleMiddle AgedSurveys and QuestionnairesYoung AdultEye ProteinsRPGR protein, human

Identifiers

PMID42168561
PMCPMC13269770

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.