Living with nystagmus: a qualitative study
- 1Department of Ophthalmology, University of Leicester, RKSCB, Leicester Royal Infirmary, Leicester, UK
- 2NIHR Research Design Service (East Midlands), Department of Health Sciences, University of Leicester, Leicester, UK
- Correspondence to Rebecca McLean, Ophthalmology Group, University of Leicester, RKCSB, Leicester Royal Infirmary, Leicester, LE2 7LX, UK;
Contributors All authors contributed substantially to this article.
- Accepted 25 March 2012
- Published Online First 19 April 2012
Background/aims To identify aspects of daily living affected by nystagmus.
Methods Semistructured interviews were conducted at the University of Leicester, UK with participants with acquired and infantile nystagmus. In total 21, participants were purposively sampled and recruited. Transcript analysis was conducted using constant comparative technique, based upon the grounded theory, to identify specific areas of living affected by nystagmus.
Results Analysis identified six domains that were adversely affected by nystagmus; visual function, restriction of movement, standing out/not fitting in, feelings about the inner self, negativity about the future and relationships. Cosmetic appearance of nystagmus, including others' avoidant response to this, was described (n=18), as was others' failure to recognise what it is like to have nystagmus (n=18). Driving issues were frequently raised (n=19) and restrictions in occupation choice/opportunities (n=17) were highlighted. Reliance on others (n=16) also emerged. Additional to other categories was an overarching and universal distress arising from nystagmus affecting every aspect of everyday life.
Conclusion Interviews revealed universally negative experiences of living with nystagmus that are previously unreported. Findings are similar to studies conducted for strabismus, in particular with respect to cosmetic impact. This study provides the content that is required to develop a nystagmus-specific quality of life tool.
- quality of life
- clinical trial
- optic nerve
- field of vision
Nystagmus is an involuntary to and fro movement of the eyes which can be infantile or acquired in later life due to vestibular or neurological disease1 and leads to decreased visual acuity.2 Infantile nystagmus syndrome (INS) can be unassociated to any other visual deficits or can be associated with eye disease, such as retinal disease, albinism, low vision or visual deprivation in early life. Acquired nystagmus can lead to oscillopsia.1 Many individuals with nystagmus will adopt an abnormal head posture to position their eyes where the nystagmus is least.3 Recent research estimates the prevalence of nystagmus to be 24/10 0004 and the impact of nystagmus is significant, with visual functioning scores in nystagmus worse than other visual disease such as age-related macular degeneration.5
Impaired vision has a wide variety of consequences for quality of life (QOL) as various eye conditions affect vision in different ways. A combination of visual, functional, psychological, social and economic factors jointly determines an individual experience.6 Vision-specific functioning measures, such as the National Eye Institute Visual Function Questionnaire (NEI–VFQ),7 are reported to be more sensitive in determining decreased functional status secondary to vision loss than general health related QOL measures such as the SF-36. Furthermore, vision ‘disease-specific’ QOL tools (eg, in strabismus) have shown to detect the impact that an eye condition has on the individual to a greater degree than do the more generic vision tools.8 ,9 Strabismus occurs in childhood, as do some nystagmus forms. It can affect vision, but more often, it is the cosmetic effects, rather than visual, of strabismus that have more detrimental consequences.10
Further disease specific tools have been developed for use in visual conditions such as cataract, age-related macular degeneration, retinal disease and ocular melanoma.11
However, there is as yet no nystagmus-specific QOL tool. US and European regulatory authorities strongly advocate a move to developing health-related QOL instruments that are based on patients', rather than clinicians' perspectives.12 To address the gap in understanding the domains of daily living affected by nystagmus from the perspective of those with the condition, we undertook a qualitative study in which we interviewed adult nystagmus patients. The aim was to identify the aspects of living with nystagmus that patients perceived as problematic (or the opposite) in order to understand how nystagmus affects QOL and, at a later stage, develop a nystagmus specific, patient derived, QOL instrument.
Materials and methods
Participants were recruited from the principal investigators' neuro-ophthalmology clinic. Patients, over the age of 16 years, with acquired or infantile nystagmus were eligible for the study. As the aim of the study was to identify a wide range of issues that can impact QOL, a non-statistical, maximum variation, purposive sampling strategy was adopted to reduce the chances of omitting to collect information that has important implications.13 This sampling strategy aims to identify as diverse a range of views/experiences as possible so that participant selection is based on the likelihood of discovering divergent experiences, rather than on principles (such as sample size calculations), underpinning the use of inferential statistics. A sampling frame was therefore drawn up to guide recruitment (details of patient attributes covered by the frame are listed in table 1) which ensured as much variety as possible on a range of characteristics that included age, gender, ethnicity, varying deprivation scores based on postal code, nystagmus type, a range of visual acuities, drivers and non-drivers, parents and non-parents and living arrangements. This research adhered to the tenets of the Declaration of Helsinki. Ethical approval was received from the Leicestershire, Northamptonshire and Rutland Ethics Committees prior to beginning the study and informed consent was obtained from all participants.
Semistructured, individual, face-to-face interviews were conducted using a topic guide and were audio taped. The open-ended questions were developed by the authors who have a range of clinical knowledge and qualitative expertise. Questions were devised to determine the impact, both good and bad, that nystagmus has on daily living. A sample topic guide can be viewed in the online supplementary file. Question responses were followed by prompts from the interviewer so that issues that were important to the interviewee could be followed up, even if they were unanticipated. As RJM was familiar to some of the participants, a choice of an unknown interviewer was also offered (KCW). All the interviews were conducted by RJM. Interviews lasted up to an hour depending upon the individual participant. Further patients were interviewed until ‘theoretical saturation’ was reached; where concurrent analysis revealed that additional interviews were giving rise to no issues that had not already been described by previous participants, meaning that the search for further new issues was likely to be futile. This is a team decision based on auditable evidence and is the usual means of determining sample size in qualitative research.14
Audio recordings were transcribed verbatim and data analysis was conducted using a constant comparative approach based on the grounded theory.13 ,14 Analysis proceeded in four steps. First, the initial four transcripts were ‘open coded’ by two researchers (RJM and KCW). This involved intensive ‘line-by-line’ reflection and summarising of transcript content, to give lists of open codes (phrases or words), each of which described a unit of meaning within the transcript. Second, the lists of several hundred codes were discussed by the researchers and then provisionally grouped into organising themes/categories, which provided the initial coding frame. Third, one researcher (RJM) used NVivo815 to systematically assign text from all the transcripts to the coding frame, actively searching for any evidence that contradicted the emerging coding frame while doing so (constant comparison). Fourth, the coding frame was continually discussed and revised as necessary when new or contradictory themes/categories appeared, enabling the coding frame to develop in a way that accurately reflected issues emerging in participants' accounts. For instance within the theme that included negative feelings about the ‘inner self’ were several subthemes such as low self-esteem and sadness or depression, but in transcript 9 a new subtheme emerged (‘guilt’) that required a revision of the coding frame. A second researcher (KCW) checked the assignment of text to categories as a method of improving rigour. A clear audit trail was generated within the software; the process by which the coding frame was derived from participant accounts is available for inspection by other researchers.
Theoretical saturation was reached by 21 participants, at which recruitment ceased. Two participants had acquired nystagmus following multiple sclerosis, nine had INS unassociated with afferent deficits and ten participants had INS associated with other eye diseases which included albinism, achiasmia, achromatopsia and congenital cataracts. Table 1 summarises the characteristics of the sample (more detailed participant characteristics, including nystagmus waveforms, can be found in the online supplementary file to enable cross-referencing).
Domains of living affected by nystagmus
Analysis revealed six domains of living that were adversely affected by nystagmus: visual function, restriction of movement (both physical and social), standing out/not fitting in, feelings about the inner self, negativity with regards to the future and relationships. Thirty-four subcategories, some of which were not mutually exclusive, made up the six themes (box 1). The most important themes are reported as determined by the frequency in which they appeared in the transcripts. Each area is illustrated by transcript extracts that gave rise to that particular category. An additional table is available in the online supplementary data that illustrates the domains that each individual participant referred to during the interview and the number of times referred. Although many themes were recounted by the participants, an overarching theme that every participant discussed emerged (n=21), that nystagmus affects every aspect of everyday life (box 2). Distress was very apparent during the interviews and 10 participants wept when describing the impact of nystagmus.
Domains and subcategories that emerged from the transcripts with the total number of interviewees reporting the topic
General visual deficit (15)
Personal preening (6)
Restriction of movement
Public transport (15)
Relying on others (16)
New environments (8)
Standing out/not fitting in
Being different (10)
Comparisons to others (10)
Others' failure to recognise (18)
Eye contact (10)
Visible aspects/cosmesis (18)
Explaining to others (7)
Feelings about inner self
Confidence and self-esteem (13)
Dwelling on problems (8)
Negativity regards future
Giving up/not attempting (8)
Abandoned/let down (12)
New encounters (8)
Quotes that illustrate the overlying theme ‘affects every aspect of everyday life’
Overlying theme—affects everything
“It creeps into everything really, everyday life.” (Patient 7)
“…it's all rolled up into one really it's just there all the while sort of thing. ” (Patient 4)
“…it affects your daily life and it will do for the rest of your life.” (Patient 16)
“…every aspect of growing up and becoming an adult has been affected by it.” (Patient 13)
“I just want to get on with stuff normally and it not bother me and it not get in the way of doing what I do every day.” (Patient 1).
Participants discussed generalised visual deficits due to nystagmus (n=15) and also the more specific areas of distance (n=9) and near vision (n=11). Tasks that are specifically affected by nystagmus such as watching the television, reading street signs and reading text were apparent in the transcripts. Further visual difficulties also arose with facial recognition (n=12) (table 2).
Restriction of movement
Participants felt constrained both physically (getting from place to place) and socially because of their nystagmus. Nineteen of the interviewees discussed being unable to drive and the restrictions this imposes on travel and also on other areas of daily living such as occupation. Occupation, in the context of driving and with regard to life choices and opportunities, arose frequently in the interviews (n=17). Public transport was an area mentioned by many of our participants (n=15). Leisure activities (n=16) and reliance on other people for help with tasks was also highly reported (n=16) (table 2).
Standing out/not fitting in
The cosmetic appearance of the nystagmus, and awareness that others' responses were avoidant or negative to this, were significant to the participants (n=18). Issues also arose with regards to head posture. Ten participants reported that nystagmus impacted upon making eye contact. Thoughts about being different (n=10) and direct comparisons to others who do not have nystagmus (n=10) suggested that the interviewees perceived themselves to be less able because of the nystagmus. The predominant issue within this theme was the failure by others to recognise what it is like to have nystagmus and the lack of understanding that exists about the condition (n=18) (table 3).
Feelings about inner self and negative future
Nystagmus was reported as affecting an individual's confidence and self-esteem (n=13). Sadness and distress because of nystagmus was also expressed (n=12). Feelings of abandonment, particularly by the medical community, were recounted by more than half of those interviewed (n=12). Feelings of hopelessness and being told by others that there was no hope emerged (n=11). Many participants described giving up and not attempting activities for fear of failure (n=8) (table 3).
The areas mentioned most frequently were visual function, driving, others noticing the visible aspects and the failure of others to recognise what it is like to have nystagmus. Restriction of movement, which included both physical and social movement was discussed by the majority of our interviewees. Issues with confidence, self-esteem, hopelessness and sadness also featured.
Although some of the affected areas of daily living that surfaced in our interviews are typically found in vision-specific QOL tools such as the NEI-VFQ and IVI (Impact of Visual Impairment Questionnaire)16 ,17 we did also elicit themes that do not currently appear, further emphasising the need to develop a tool that is specific to nystagmus. A consequence of nystagmus is reduced visual acuity; therefore, it was expected that visual function would materialise during the interviews. This reduction in visual acuity means that the majority of individuals with nystagmus have issues around driving and this was also emphasised within the transcripts.
A key area that was reported by the participants in our study was the feeling of standing out and/or not fitting in. The cosmetic appearance of the nystagmus was of the utmost importance because of awareness that others' responses to this were avoidant or otherwise negative. Cosmetic effects were described as affecting the way participants interacted with others including avoidance of eye contact. The cosmetic effect of nystagmus is an area not previously examined although similar findings have been reported in strabismus where a psychosocial impact has been established, affecting self-image and interpersonal relationships and self-esteem18; aspects that were found to be important for nystagmus. It is possible that when considering treatment for nystagmus, the cosmetic effects are underestimated. Our results imply that assessing efficacy of treatments for nystagmus should not be based just upon visual function but also upon cosmetic considerations. Recording eye movement can aid in assessing cosmetic changes and should be considered an important outcome measure to use in clinical trials alongside measures of visual function.
Others' failure to recognise what it is like to have nystagmus and people's misunderstanding/lack of knowledge about the condition is upsetting. Ultimately, this has implications for relationship-building, personal and professional, a topic that is also affected by strabismus. Visible strabismus is reported to negatively influence the ability to obtain employment19 and the capability of finding a partner.20 Literature suggests that strabismus is still misunderstood by the general population and has a detrimental influence on major life goals. If this is the case for strabismus where the prevalence is 3% to 5% of the population21 ,22 we postulate that the awareness of nystagmus as a condition, which has a far lower prevalence of 0.24%,5 is minimal and has social and psychological consequences for those with nystagmus. The statement that nystagmus ‘affects everything’ frequently surfaced during the interviews. This coupled with the fact that almost half of the participants (n=10i) wept while being interviewed confirms the importance of accurately assessing QOL in this group of patients.
The aim of this study, to identify areas of daily living that are affected by nystagmus from the perspective of individuals who have the condition, is considered to be best addressed by qualitative methods.12 However, this approach may have some limitations. Therefore, every effort was made to ensure that participants were not asked leading questions. Transcripts were examined thoroughly by more than one member of the research team and regular meetings were held with experienced qualitative researchers to discuss developing themes. As this is the first study for nystagmus, there is no existing research to compare our findings with. However, our findings are similar to those reported for QOL strabismus studies (which like nystagmus affects vision/cosmesis and can occur in childhood) allowing us to make comparisons.
A number of studies are available that report treatment options for nystagmus.23 One randomised controlled trial reports that gabapentin and memantine significantly reduce INS and improve vision as compared with placebo.24 However, visual and social functioning questionnaires that were administered showed no significant differences between active treatment groups and placebo. A possibility is that the vision specific QOL instruments used are not sensitive to the domains of living that are affected by nystagmus. Our study has uncovered a number of themes that are affected by nystagmus, for example, cosmesis, social restrictions and psychological distress, that to date have not been considered when describing the impact of nystagmus and evaluating treatments. Although poor visual acuity would directly contribute to the impacted domains of living raised by our interviewees such as visual function and restriction of movement, our interviews clearly show the need to consider much more than poor visual acuity when investigating nystagmus. The six domains that emerged provide the necessary evidence to develop a patient-derived, disease-specific, QOL tool for nystagmus, allowing questionnaire items to be written that are grounded in the perspectives of individuals with nystagmus.
The authors would like to acknowledge Elizabeth Ockleford and Frank Proudlock for their contribution.
Funding This study was supported by Fight for Sight and Nystagmus Network UK.
Competing interests None.
Patient consent Obtained.
Ethics approval Ethics approval was provided by Leicestershire, Northamptonshire and Rutland Ethics Committees.
Provenance and peer review Not commissioned; externally peer reviewed.
↵i *Participants 1,4,6,8,10,11,13,14,15 & 21 wept while being interviewed. These participants had a range of visual functioning and nystagmus characteristics as documented in the online supplementary file of participant characteristics.