Retina International is proud to have contributed to a newly published study, EXPLORE XLRP-2, which has shed light on the significant but often overlooked impact that X-linked Retinitis Pigmentosa (XLRP) has on informal caregivers, most often family members providing daily support. The study has been published in the journal Advances in Therapy by Springer Nature.
Alongside leading researchers and clinical experts across Europe and Israel, our CEO, Avril Daly, and our Head of Research and Programmes, Dr Nabin Paudel, contributed to this important research effort. The study is the first of its kind to systematically explore and document the challenges experienced by caregivers of individuals living with XLRP caused by RPGR mutations.
A Heavy Load of Care
Caregivers participating in the study reported spending an average of 28.7 hours per week caring for a loved one with XLRP. Most caregivers were either spouses (50.8%) or parents (41.5%), with nearly 88% being women. The time spent providing care was even higher among caregivers of individuals with more severe visual impairment.
Impact on Mental Health and Employment
The study found that nearly half (46.2%) of caregivers experienced anxiety, and over one in five (23.1%) reported symptoms of depression. Employment was also significantly affected:
- Among employed caregivers, over one-third worked part-time to accommodate care duties.
- Of those unemployed, a third cited caregiving responsibilities as the reason.
These findings point to a substantial social and economic burden borne by caregivers, one that often goes unrecognised in health system planning and policy.
Limitations in Assessment Tools
Notably, the study found that current caregiver-reported outcome surveys may not fully capture the scope of the emotional, social, and financial impacts of caring for someone with XLRP. This underlines the need for more tailored assessment tools to better understand and respond to caregiver needs in the context of rare retinal diseases.
Our Call to Action
“The EXPLORE XLRP-2 study underscores a critical need for a more comprehensive approach to caregiver support in rare diseases. By including caregiver experiences and mental health impacts in future research, we can create more effective, patient-centered care models that address the full spectrum of challenges faced by families living with XLRP.”
– Avril Daly, CEO, Retina International.
“This research reinforces the importance of including caregiver voices in our understanding of inherited retinal diseases. The data clearly show that caregivers face substantial and complex burdens, and yet we lack the tools to truly capture their lived experience. We must close this gap through research, policy, and support services that recognise caregivers as key contributors to patient health and well-being.”
– Dr. Nabin Paudel, Head of Research and Programmes, Retina International
About XLRP
X-linked Retinitis Pigmentosa is a rare, inherited retinal condition that typically begins with vision loss in childhood and progresses to legal blindness in adulthood. It is among the most severe forms of retinitis pigmentosa and presents profound challenges for patients and families alike.
Retina International is committed to advancing research that reflects the realities of patients and their support networks. As we continue to champion access to therapies, inclusive clinical research, and health system reform, studies like EXPLORE XLRP-2 offer critical evidence to shape a more compassionate and equitable future for those living with retinal degenerative diseases.
