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; Alan Ma; John R. Grigg; Robyn V. Jamieson

doi:10.1038/s41433-026-04532-y

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, Alan Ma, John R. Grigg, Robyn V. Jamieson

Macquarie Business School

Research output: Contribution to journal › Review article › peer-review

Abstract

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

Methods: Primary 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.

Results: Average 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.

Conclusion: XLRP 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.

Original language	English
Number of pages	6
Journal	Eye
DOIs	https://doi.org/10.1038/s41433-026-04532-y
Publication status	E-pub ahead of print - 21 May 2026

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10.1038/s41433-026-04532-yLicence: CC BY

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@article{adb1790597164d02b4cd99624f99b192,

title = "The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR",

abstract = "Objectives: To estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR.Methods: Primary 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.Results: Average 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.Conclusion: XLRP 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.",

author = "Deborah Schofield and Joshua Kraindler and Shrestha, \{Rupendra N\} and Owen Tan and Sarah West and Natalie Hart and Lauren Wall and Liny Tan and Dustin Hewett and Lorraine Villaret and Alan Ma and Grigg, \{John R.\} and Jamieson, \{Robyn V.\}",

year = "2026",

month = may,

day = "21",

doi = "10.1038/s41433-026-04532-y",

language = "English",

journal = "Eye",

issn = "0950-222X",

publisher = "Springer, Springer Nature",

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TY - JOUR

T1 - The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR

AU - Schofield, Deborah

AU - Kraindler, Joshua

AU - Shrestha, Rupendra N

AU - Tan, Owen

AU - West, Sarah

AU - Hart, Natalie

AU - Wall, Lauren

AU - Tan, Liny

AU - Hewett, Dustin

AU - Villaret, Lorraine

AU - Ma, Alan

AU - Grigg, John R.

AU - Jamieson, Robyn V.

PY - 2026/5/21

Y1 - 2026/5/21

N2 - Objectives: To estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR.Methods: Primary 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.Results: Average 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.Conclusion: XLRP 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.

AB - Objectives: To estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR.Methods: Primary 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.Results: Average 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.Conclusion: XLRP 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.

UR - https://purl.org/au-research/grants/nhmrc/2027453

UR - https://www.scopus.com/pages/publications/105039776398

U2 - 10.1038/s41433-026-04532-y

DO - 10.1038/s41433-026-04532-y

M3 - Review article

C2 - 42168561

SN - 0950-222X

JO - Eye

JF - Eye

ER -

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

Abstract

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NHMRC Partnership: Translation of precision medicine into clinics for genetic blindness: from diagnosis to clinical management and therapies

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

Abstract

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NHMRC Partnership: Translation of precision medicine into clinics for genetic blindness: from diagnosis to clinical management and therapies

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