OBJECTIVES: This review aimed to assess the burden of X-linked retinitis pigmentosa (XLRP), a form of retinitis pigmentosa (RP) generally associated with rapid progression to legal blindness, particularly in males.

METHODS: Literature databases (MEDLINE, Embase, and Cochrane Reviews) 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. Patients’ perspectives presented by patient advocacy groups were examined.

RESULTS: Eight studies describing the clinical burden of XLRP were identified. For XLRP patients, night blindness and loss of peripheral vision usually present from the first decade of life, then followed by central vision loss; legal blindness often occurs by 30–40 years of age (compared with 70 years for common forms of RP). No studies of the humanistic or economic burden of XLRP were identified, but some studies were published on these topics for RP. One study suggested that the progressive trajectory of RP was important: people reported feelings of loss, isolation, and fear, loss of vision-related hobbies and pastimes, productivity loss and loss of social support. Two studies identified an increased suicide risk in people with RP. Patient testimonies from published studies and literature from patient advocacy groups showed that people living with RP reported difficulties with everyday tasks, compromising quality of life. Healthcare costs were found to be higher in people with RP than in those without RP, predominantly due to increased outpatient costs.

CONCLUSIONS: The impact of XLRP, an ultra-rare disease, on patients and society has not been widely studied. However, the early onset and rapid progression of XLRP suggest that the burden of XLRP may be greater than that of RP, which has been examined in some published research. Future studies on XLRP are warranted.