OBJECTIVES: To assess the humanistic and economic burden of Retinitis Pigmentosa (RP) in Japan.

METHODS: A literature review was performed through PubMED, Medline and ICHUSHI databases in English and Japanese from 2005 to 2020 to gather humanistic and economic burden of RP patients in Japan.

RESULTS: 25 out of 289 publications met the inclusion criteria (n＝25).

From a humanistic perspective (n=23), all papers mentioned RP symptoms such as photophobia, night blindness, progressive loss of visual acuity and visual field until blindness. RP has been found to be a leading cause of vision impairment from 18 to 49 years old (n=1). Additionally, disability certification holders are reported to be mostly of Grade 2 (n=1). Out of 7, Grade 1 is the most severe status on the Japanese disability certification scale. Substantial burden was noticeable by low functional vision scores and low vision related QOL (VFQ-25) particularly in peripheral vision, driving and mental health (n=2). 37% of patients experienced anxiety and 26% endured depression (n=1). Various aspects such as daily activities, social participation, professional life, personal life, disease progression and blindness were worrying patients (n=7). Autonomy was also impacted with limitation in eating, reading, and walking triggering the need for multiple assistive devices (n=11).

From an economic standpoint (n=8), patients reported difficulties to commute and navigate inside their workplace, as well as challenges in productivity, and professional relationships (n=3). While some received successful support from occupational physicians, there were cases where visual impairment forced employees to take leave of absence or quit their job (n=5). No education related information nor supported cost have been available.

CONCLUSIONS: In Japan, RP was reported to be a major cause of visual impairment at working-age. The relevant publications showed that RP patients are facing heavy burden in mental health, daily activities, autonomy and professional life.