The Burden of X-Linked Retinitis Pigmentosa on Patients and Society: A Narrative Literature Review

X-linked retinitis pigmentosa (XLRP) is a severe form of retinitis pigmentosa (RP), a rare, inherited retinal degenerative disorder, that causes blindness. The aim of this literature review was to identify what is currently known about the burden of XLRP. Literature 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 UK, published in English between 2014 and 2019; gray literature and cited references were reviewed. Literature describing XLRP is limited as this is an ultra-rare condition; findings relating to burden of RP have been reported with interpretation of how burden differs for XLRP. In XLRP, night blindness usually presents in the first decade of life, followed by loss of 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 or economic burden specific to XLRP; one study identified greater vision-related activity limitations in patients with XLRP compared with the wider RP population. Qualitative studies describe increased humanistic burden for people living with RP; difficulty undertaking everyday tasks (driving, hobbies, reading), psychosocial burden and barriers to work and career. People described the emotional impact of dealing with progression of RP, ongoing social and physical challenges, and the impact of RP on relationships. The economic burden of RP is associated with lost productivity, greater healthcare costs and increasing requirement for formal and informal care. In summary, XLRP remains an untreatable condition 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 earlier progression to blindness during prime working years may mean a comparatively greater lifetime burden of disease.