Table 2 Overview of key symptoms, impacts and moderating factors reported by participants (N = 66)

Visual function symptoms

Night blindness (n = 63)

“The most important sign, right away, was night vision. Indeed, it was observed very, very early on that he had night blindness, this is what planted suspicion in us.” (Caregiver of RPE65 child patient from France)

Impaired peripheral vision (n = 61)

“So my peripheral vision, so, um, basically it's like tunnel vision, so all I can basically see is what's right in front of me. I have very limited—I can't see nothing on the side of me, so it's basically all central.” (RLBP1 adult patient from Canada)

Reduced vision in very bright lighting (n = 57)

“It can be glaring, again, kind of that painful needling, um, glare feel sensation where I find I'm squinting my eyes, even just in my kitchen looking out through the kitchen window to the bright yard, it's very painful like a headache kind of, um, throbbing eye and outside it's not easy or feeling safe to be able to walk around because of that focus on just trying to not hurt, you know, in the eye.” (PRPF31 adult patient from the US)

Reduced light to dark adaptation (n = 55)

“I am quite dazzled when I walk from a dark room into the light or vice versa. When I come from somewhere where there is bright light, whether it is sunlight or whether it is a brightly lit room and I go into the hallway or I come from outside and go into the garage, then it takes me some time to get used to anything. To get used to the light conditions. Either to the very bright light or to the very dark light.” (RPGR adult patient from Germany)

Impaired colour vision (n = 51)

“I can like barely see the difference from navy blue and black. Like, um, I don't know, I mean, it's hard to tell the difference from like dark colors, like say like this is dark green or black, I just kind of say black, cause I don't know.” (RP2 adolescent patient from the US)

Impaired contrast sensitivity (n = 51)

“Well, sometimes if it like blends in with the floor, I can't really see it, and I might trip over it or run into it…Uh, sometimes when I run in class trying to get something, um, the backpack might be there, or I might not see it, and I run into it and fall.” (RPGR child patient from US)

Impaired distance vision (n = 41)

“The further away it gets, the more difficult, uh, it gets for me to see.” (RLBP1 adult patient from Canada)

Impacts on vision-dependent activities of daily living

Impacts on vision-dependent ADL (n = 66)

Viewing digital screens (n = 49)

“On the computer, because I use it a lot for work, I have trouble looking at elements when there is a lot of information on the screen. Especially when it’s not really linear or when there is too much of it. Well, that’s what comes to mind.” (RPE65 adult patient from France)

Difficulty finding things (n = 41)

“I asked my family for a headlamp for my birthday two or three years ago. They pooled some money and bought me a high-quality lamp that helps me tremendously when looking for things in the household. If I don't find something, I reach for the headlamp and usually find what I am looking for.” (RPGR adult patient from Germany)

Difficulty reading (n = 39)

“Um, even now to the point of cooking, I do most of the cooking, reading the ingredients or the directions on the packaging is a struggle. Um, it’s gotten to the point of just setting the temperature on the stove or on the oven is a struggle to see the numbers.” (RPGR adult patient from US)

Impacts on mobility (n = 66)

Bumping into objects and/or people (n = 45)

“Like what I might walk into or bump into or fall down. But if I'm with my—if I have my cane with me, I feel a little more safe, but it's still a little like uncomfortable.” (RDH12 child patient from US)

Difficulty walking and moving around (n = 45)

“But I would be more inclined to wait for a complete clear path of things, so the same would be true for like just crossing your walking areas, where I would pretty much wait until everybody has kind of done their thing, and they seem to be still and where they need to be, and then I'll proceed and go.” (PRPF31 adult patient from US)

Falling/tripping (n = 38)

“If I'm inside a bright lighting and I go out—open the door to go outside, it's completely dark. Um, I'm completely disoriented as to knowing where I'm—or what—I'm afraid to—if I go outside, to make a misstep and step—fall over steps or stairs or something of that nature.” (RLBP1 adult patient from Canada)

Difficulty using steps/stairs (n = 37)

“I can’t judge the distance, like if – especially if it’s a slope or the stairs aren’t even, each step, it messes with me. So, I just feel unsteady.” (EYS adult patient from US)

Impacts on distal HRQoL

Social functioning (n = 65)

Relationships with friends (n = 33)

“For example, they go out in the evening or at night. I do not trust people that much. I do not trust all people. It happened many times when I went out with friends in the evening that I suddenly found myself alone and did not know what to do, because I could not see anything. That is why i avoid going out with others. That makes me a bit sad, because I would also like to go out with my friends at night or in the evening.” (RPE65 adolescent patient from France)

Impacts on work and school (n = 63)

Difficulty seeing the reading board (n = 15)

“…in school, um, he has notes where he has to sit upfront to read, uh, the marker board. Um, and he wears glasses to help him see and read and all that kind of stuff.” (Caregiver of RPGR child patient from US)

Emotional wellbeing (n = 61)

Worried/anxious (n = 40)

“Just worrying about losing all of my vision. I just—yeah. I do. I sometimes—not a lot, but I do worry.” (RHO adult patient from US)

Financial impacts (n = 20)

Reduced income (n = 15)

“I would say at this point, um, the only thing that, that financially its affected is, uh, I used to do, uh, PRN, uh, with home health and that was just like extra after my job and I had to quit doing that…” (PRPF31 adult patient from US)

Moderating environmental factors

Lighting condition (n = 66)

Dim lighting (n = 66)

“The biggest thing for him is low light situations, and that's really about the only time it is, um, and it's if he has to unexpectedly navigate with low light” (Caregiver of RPGR child patient from US)

Very bright lighting (n = 60)

“You know, like, like I always say on a cloudy day, this is my favorite eye type situation because it's not so bright that my eyes are trying to readjust and everything.” (EYS adult patient from US)

Familiarity of environment (n = 58)

Unfamiliar places (n = 54)

“But when we're at grandma's, he turns on his little lamp. Then he walks around the room a bit more carefully. You can tell he's a little less safe there.” (Caregiver of RP2 child patient from Germany)

Familiar places (n = 49)

“In my own home, it's not so bad because I know where everything is too.” (RLBP1 adult patient from Canada)