The burden of x-linked retinitis pigmentosa on patients and society: A narrative literature review

Abstract

X-linked retinitis pigmentosa (XLRP) is a severe form of retinitis pigmentos(RP), a rare, inherited retinal degenerative disorder, that causes blindness. The aim of thiliterature review was to identify what is currently known about the burden of XLRPLiterature databases were searched for articles describing the clinical, humanistic, or economic burden of XLRP or RP in the US, Japan, France, Germany, Italy, Spain, and the UKpublished in English between 2014 and 2019; gray literature and cited references werreviewed. Literature describing XLRP is limited as this is an ultra-rare condition; findingrelating to burden of RP have been reported with interpretation of how burden differs foXLRP. In XLRP, night blindness usually presents in the first decade of life, followed by losof peripheral and then central vision; legal blindness is reported at a median of 45 years in affected males (vs median 70 years for RP). There is limited evidence of humanistic oeconomic burden specific to XLRP; one study identified greater vision-related activity limitations in patients with XLRP compared with the wider RP population. Qualitativstudies describe increased humanistic burden for people living with RP; difficulty under-taking everyday tasks (driving, hobbies, reading), psychosocial burden and barriers to work and career. People described the emotional impact of dealing with progression of RPongoing social and physical challenges, and the impact of RP on relationships. The economiburden of RP is associated with lost productivity, greater healthcare costs and increasing requirement for formal and informal care. In summary, XLRP remains an untreatablcondition that can impact people from childhood. The humanistic burden of RP has been shown to increase as the disease progresses; hence, in XLRP the earlier onset and earlieprogression to blindness during prime working years may mean a comparatively greatelifetime burden of disease.