A survey of 19 patients with hereditary retinitis pigmentosa details the impact of the disease on the quality of life and daily activity of patients and caregivers.
Christine Kay, MD
A new survey of patients with hereditary retinitis pigmentosa provides an overview of experiences of functional vision impairment and health-related quality of life associated with the inherited retinal disorder.
Due to be presented at the Association for Research in Vision and Ophthalmology (ARVO) 2020 Annual Meeting, results of the study offer ophthalmologists further insights into the impact of retinitis pigmentosa in a patient group representing 6 different genotypes of the disease.
“These findings informed the inclusion of concepts in newly developed patient-reported outcomes or observer-reported outcomes instruments for use in retinitis pigmentosa,” said lead investigator Christine Kay, MD, vitreoretinal surgeon and ophthalmologist at Vitreoretinal Associates in Gainesville, FL, during her ARVOLearn presentation.
With retinitis pigmentosa impacting 1 in 5000 individuals worldwide, Kay and a team of colleagues designed their study to use responses to semi-structured qualitative interviews from a group of 19 participants within the US. For inclusion in the study, participants were required to have a clinical and genetic diagnosis of retinitis pigmentosa.
Of the 19 included in the analysis, 16 were adults, 1 was an adolescent, and 1 represented a child-caregiver pair. In regard to participant genotype, 7 were classified as RPGR, 3 as EYE, 2 as PRPF31, 2 as USH2A, 2 as RHO, and 2 as RPE65. Not including the child-caregiver pair, 9 of the 18 participants were female and 72% were between the ages of 25-64 years.
Upon analysis, issues with peripheral vision, issues with light/dark adaptation, and symptoms of night blindness were reported among all 19 survey respondents. Visual function symptoms related to color vision (n=16), vision in very bright lighting (n=16), depth perception (n=12), contrast sensitivity (n=10), and distance/middle distance vision (n=8) were also reported by participants.
When examining the impact of retinitis pigmentosa on activity, investigators found 16 participants reported bumping into objects or people. Additionally, subjects reported impact on vision caused limitations when navigating steps or stairs (n=12), limitations walking and moving around (n=12), and tripping or falling (n=11).
Almost all patients (n=17) reported their vision impacted their ability to drive. Patients also reported their disease impacted their ability to read (n=11), find things (n=11), shop (n=10), view digital screens (n=9), complete household tasks (n=8), and perform self-care activities (n=5).
Investigators also highlighted the impact of hereditary retinitis pigmentosa on the emotional well-being, social functioning, and independence of participants. Specifically, 16 participants reported their disease impacted their independence, 16 reported visual impact induced a low mood or depression, and 7 reported an impact on their income as a result of the disease.
During her presentation, Kay noted a second round of interviews is currently being conducted in the US, France, Germany and Canada to provide a more comprehensive look at the impact of hereditary retinitis pigmentosa.
This study, titled “Patient and caregiver experiences of functional vision impairment and health-related quality of life limitations associated with hereditary retinitis pigmentosa,” was published in Investigative Ophthalmology and Visual Science.
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