Eye (2017) 31, 741–748 © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved 0950-222X/17 www.nature.com/eye Seeing through their M Prem Senthil, J Khadka and K Pesudovs CLINICAL STUDY eyes: lived experiences of people with retinitis pigmentosa Abstract Purpose Retinitis pigmentosa (RP) is the Eye (2017) 31, 741–748; doi:10.1038/eye.2016.315; most common retinal degeneration causing published online 13 January 2017 blindness. Although their clinical problems are amenable for the clinical diagnosis, their Introduction day-to-day problems for having to live with the disease are mostly unexplored. This study Retinitis pigmentosa is a group of inherited aims to explore and understand the issues retinal disorders that affects the photoreceptors and impact of people with RP on quality of and the retinal pigmentary epithelium.1 In some life (QoL). disorders the rods are affected first and the cones Methods A qualitative research later (termed rod-cone dystrophy) or the reverse methodology to facilitate the understanding (cone–rod dystrophy). Rod–cone dystrophy is the of the experiences of people with RP was most common form of RP, in which the first carriedout.Datawerecollectedthrough manifestation is night blindness, followed by audio-recorded semi-structured interviews. decreasing visual fields and eventually leading to Thematic analysis occurred through the blindness after several decades. The prevalence of process of line-by-line coding, aggregation, RP is 1 in 3000 to 1 in 5000.2 Majority of the and theme development using the NVivo-10 disorders have a genetic basis3 and involve software. photoreceptor cell death by apoptosis. Retinitis Results Twenty-three interviews were pigmentosa can be inherited as autosomal conducted (mean age = 56 years; females, 14). dominant (30–40%), autosomal recessive (50– We identified five major QoL themes: (1) 60%), or X-liked recessive (5–15%) manner.3–6 The struggle to perform important day-to-day role of oral vitamin A and docosahexaenoic acid tasks; (2) concerns about disease progression, (DHA) in slowing down the degenerative process Discipline of Optometry and 7 disease outcome and personal safety; (3) in typical RP is not well established. However, Vision Science, NHMRC facing a lot of emotional and psychological dietary modification and nutritional supplements Centre for Clinical Eye challenges; (4) experiencing a myriad of may be beneficial for rare syndromic forms of Research, Flinders University visual symptoms; and (5) adopting different RP.8,9 Newer therapeutic modalities for RP of South Australia, Adelaide, South Australia, Australia strategies to cope and manage stressful include gene therapy, cell transplantation, fi 10,11 circumstances. Dif culty in performing neuroprotection and hyperbaric oxygen. Correspondence: important day-to-day tasks was the most Retinitis pigmentosa is a disabling disease that J Khadka, NHMRC Centre prominent QoL issue among these people. is currently incurable. It typically starts at the for Clinical Eye Research, Their major concerns were going blind and early teenage years and progresses to severe Flinders University of South uncertainties about their future. They face a visual impairment during the 4th and the 5th Australia, Adelaide, South Australia 5001, Australia lot of emotional and psychological challenges decade. The classical symptoms of RP include Tel: +61 8 87221 8407; to adapt to the physiological stress associated nyctalopia (night blindness), peripheral visual Fax: +61 8 7221 8399, with the progressive vision loss. However, loss and in advanced cases central visual loss E-mail: jyoti.khadka@ they adopt several coping strategies to and photopsia (seeing flashes of light). Apart flinders.edu.au manage the stressful circumstances. from the classical symptoms, people with RP Conclusions People with RP experience a exhibit difficulty adjusting to changing levels of Received: 15 September 2016 fi 12 myriad of QoL issues. Despite all the illumination, dif culty seeing in poor contrast, Accepted in revised form: 13,14 hardship, they remain optimistic and learn to abnormal temporal processing, and motion 2 December 2016; accept their eye condition and move on perception anomalies.15 All these difficulties Published online: in life. along with the progressive visual loss can have a 13 January 2017 Quality of life impact in retinitis pigmentosa M Prem Senthil et al 742 serious impact on quality of life (QoL) of an individual across the transcripts.17 This exercise helped us to identify with RP. Even though these problems are identified key threads. These key threads were then re-assessed by clinically, limited research has been conducted to the authors to come to a decision whether they qualify to understand the impact on day-to-day life of people with form a theme. Any discrepancies between the authors RP from their perspectives. A well-conducted qualitative were resolved by discussion. New or improved themes study is essential to understand the patient’s experience of that emerged from later transcripts were incorporated living with RP. Hence, the aim of this study was to into the coding hierarchy, and earlier transcripts were explore the issues and impact of people with RP on QoL. updated to reflect the modification. The computer program QSR NVivo 10 (QSR International Pty Ltd) was Materials and methods used to code the transcripts systematically. Twenty-three participants with RP were recruited through a nonprobability, convenience sampling Rigor techniques. Participants were recruited from the Royal Several identified strategies were used to enhance the Society for the Blind (Adelaide) and Retina Australia trustworthiness of this study including credibility, Society (Queensland, Western Australia, Victoria, New transferability, dependability, and confirmability. fl South Wales, and Canberra) through emails and yers. Credibility was achieved through adoption of systematic, Participants who responded to the email request and the in-depth field work and triangulation of time and space fl yers were sent out a research pack consisting of an (various times of the day, week, and year were used in the invitation letter, participant information sheet, consent collection of the data and use of multi-sites for participant form and demographic form in the post. Upon receiving recruitments). Transferability was achieved through the consent form, participants were contacted through description of the clinical context of the study and telephone to organise a date and time for an interview. description of the demographics of the participants. A semi-structured interview guide was developed from Dependability was achieved through in-depth description existing literature and expert consultation and it was of the methodology and confirmability was achieved validated by a panel of experts. The interviews were through the recognition of shortcomings in study’s carried out over the telephone. All the interviews method and their potential effects. occurred between August 2014 and June 2015. All interviews were audio recorded and transcribed. Interviews were carried out till thematic saturation (no Results additional new information arising) was obtained. A total of 23 interviews were conducted (mean age = 55.6 An ethical approval was obtained from the Southern years (SD = 14.3); range = 28 to 81 years; females, 14). Adelaide Clinical Human Research Ethics Committee and Two-thirds of the participants were above the age of 50 the corresponding ethics committees at health care facilities and the study adheres to the Tenets of years and all the participants had bilateral disease Declaration of Helsinki. (Table 1). The mean age of onset of the disease was 18.8 years (SD = 11.8) and the mean duration of the disease was 38.9 years (SD = 14.7). We identified five major QoL Data analysis themes: (1) struggle to perform important day-to-day We used an inductive approach where the content of the tasks (activity limitation); (2) concerns about disease data directed the coding and the theme development progression disease outcome and personal safety (health (data-driven).16 Nodes (words or phrases) to code text concerns); (3) facing a lot of emotional and psychological segments were generated after scan reading individual challenges (emotional well-being); (4) experiencing a transcripts. The nodes bear meaning of the text segments myriad of visual symptoms (symptoms) and (5) adopting to be coded by them as close as possible. For this, we different strategies to manage stressful circumstances carried out an open coding strategy which entailed line- (coping; Figure 1) by-line coding approach. Each transcript was coded using the nodes in its entirety. Once the coding was complete, Struggle to perform important day-to-day tasks (activity individual nodes were reorganized by assimilating them limitation) into different categories (that is, nodes of similar concept were brought under the umbrella of a mother node Participants with RP frequently reported difficulty in (potential major theme)). The mother nodes with performing important day-to-day tasks such as reading, component child nodes (potential sub-themes) were seeing in changing light conditions, shopping, driving, explored to identify linkage between similar patterns playing sports, taking part in leisure activities and doing Eye Quality of life impact in retinitis pigmentosa M Prem Senthil et al 743 Table 1 Sociodemographic details of the study sample Variable n = 23 Age (years, n (%)) ≤ 55 10(43) Range 28 to 81 Mean