First clinical experience with the Transthyretin Amyloidosis-Quality of Life questionnaire (ATTR-QoL): associations with clinical characteristics and established patient-reported outcomes.

The inherited retinal degenerations are genetic diseases characterised by significant genotypic and phenotypic diversity. However, they are all caused by genetic defects that typically affect genes encoding proteins involved in phototransduction or the visual pigment cycle (Garcia‐Ayuso et al., ; Hartong et al., ; Jones et al., ; Silverman & Wong, ). There are more than 80 disorders with over 200 implicated genes, which can be categorised by their inheritance pattern (Armstrong & Mousavi, ; Garcia‐Ayuso et al., ; Hadj‐Said et al., ; Sobrin & Seddon, ). Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, characterised by progressive degeneration of photoreceptors (PRs) and retinal pigment epithelium. It affects approximately 1 in 4000 individuals, and thus, it is estimated that there are 50 000–100 000 cases in the United States and 1.5 million globally (Frick et al., ; Hartong et al., ). This disease is caused by various mutations in rod proteins, leading to PR cell death, initially affecting rods and later cones. Mutations in the same gene can cause different clinical phenotypes, while similar clinical phenotypes can result from mutations in different genes (Bourne et al. ; Flaxman et al. ). Because RP is an inherited disease characterised by substantial genetic heterogeneity, effective non‐genetic strategies to preserve retinal structure and function are needed. (Chaumet‐Riffaud et al., ; Cross et al., ). To facilitate the understanding of the pathophysiology of the inherited retinal degenerations, animal models of RP have been employed. A widely used model is the Royal College of Surgeons (RCS) (Garcia‐Ayuso et al., ; LaVail, ; LaVail et al., ) rat. This animal carries a recessive mutation in the MERTK gene that encodes a transmembrane protein present in the retinal pigment epithelium (RPE) that regulates the phagocytosis of PR outer segments by the RPE, a crucial process for PR survival (LaVail, ; LaVail et al., ). The MERTK mutation carried by the RCS rat has been identified in 1–2% of human RP cases (Audo et al., ; Poli et al., ). PR degeneration in RCS rats begins later than in other RP models, such as the P23H‐1 rat, but it progresses rapidly, resulting in severe loss of both rods and cones within the first 3 months of life (Di Pierdomenico et al., ). MERTK mutations in human RP cause also a severe disease with early macular involvement, but the phenotypic characteristics are variable, probably due to mutation diversity (Audo et al., ; Poli et al., ). PR degeneration leads to a decline in scotopic and photopic electroretinographic function and loss of visual acuity (Berson et al., ; Di Pierdomenico et al., ; Gal et al., ; Garcia‐Ayuso, Di Pierdomenico, Agudo‐Barriuso, et al., ; Martinez‐Vacas et al., ).