OBJECTIVES: Inherited retinal dystrophies (IRDs) are a group of diseases that can result in visual impairment (VI) or blindness. While studies on socio-economic costs of VI or blindness exist, the specific humanistic and economic burden resulting from IRDs has been largely overlooked. Therefore, a grey literature review was conducted to understand and evaluate the humanistic and economic burden associated with VI from IRDs in Brazil that was not captured in peer-reviewed literature.

METHODS: A review of grey literature published between 2014 and 2019 was conducted from the relevant data sources including conference abstracts, government publications, dissertations/theses, guidelines, policies and procedures. Relevant articles were selected, and the quality of each article was assessed using an evidence-grading system.

RESULTS: Despite public healthcare services being free at the point of use, approximately 22% of residents pay for private health insurance. More than 6.5 million people in Brazil have visual impairment regardless of etiology and, 55% of the population has not undergone genetic testing regarding their IRDs. A hospital admissions database showed that the average cost for IRDs per adult patient was R$ 2,785.73 per year. Indirect costs due to loss of productivity in adults with VI was estimated at R$ 31,833.50 for 2017. The humanistic burden of IRDs has been described in a series of case reports, demonstrating the wide-reaching impact on patient’s health-related quality of life (HRQoL), self-esteem and ability to find employment. One study highlighted the lack of usage of patient-reported outcomes (PROs) for measuring the impact of IRDs on HRQoL.

CONCLUSIONS: Brazil has a decentralized healthcare system with limited availability of data regarding privately funded healthcare. Few sources were describing the economic or humanistic burden explicitly associated with RP, LCA and other IRDs. Further research is needed to have a holistic view of burden from the health system and societal perspective.