Article

Stargardt's macular dystrophy - A patients perspective

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Abstract

The purpose of this paper was to evaluate life experience, including disease characteristics, daily-living activities, employment, interactions with health care professionals, and support services in patients diagnosed with Stargardt's macular dystrophy. More than 200 patients with Stargardt's disease responded to a 68-question survey. Results were analyzed using SAS Statistical Analysis Package. Of 203 responders, 142 (70%) were women. Early disease onset occurred in more than 60% of patients. Blurred vision (134, 66%) and glare (183, 90.1%) were the leading symptoms reported. Reading (116, 57.1%), driving (86, 42.4%), and recognizing faces (66, 32.5%) were daily-living activities most difficult to perform. Patients with early disease onset had worse vision at presentation (p = 0.001), faster progression of visual loss (p = 0.007), and were more often diagnosed with a non-physiological visual loss (p = 0.007). Patients with late disease onset had more difficulty with orientation and coping skills (p = 0.02). Sixty-five percent of evaluated adults (108 of 165) were employed. Although the study illustrates that patients with Stargardt's disease can contribute and function well in contemporary society, issues related to depression, and availability and quality of health care, are still major concerns for this patient population. The study shows differences in progression of visual loss between patients, with early versus late disease onset indicating that age at onset and visual acuity at presentation might be two important factors influencing patient's visual prognosis. Finally, the study suggests parallels in psychological profiles between late age at onset Stargardt's disease and age-related macular degeneration patients.

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... Stargardt disease (SD), a juvenile form of age-related macular degeneration (AMD), currently affects about 25,000 individuals in the United States [1]. SD is a primarily genetic recessive disorder that most typically has noticeable detrimental effects on central vision when the individual is between 10 to 20 years old [2]. Individuals with SD experience diminished central vision specifically in the macular region which is needed for sharp central vision. ...
... This commonly results in visual acuity between 20/100 and 20/400; thus, many people affected with this disease are legally blind [3]. Mied ziak and colleagues found that at the time of SD diagnosis, only about half of the sample felt they were adequately counseled [2]. Moreover, the majority of this sample reported depressive symptoms stemming from their vision loss. ...
... Although the ability to navigate remains somewhat intact for those with SD, they may be unable to make simple recognitions of objects in their central line of vision. One consequence is an inability to identify faces [2], a disability that can be socially stressful. Individuals may fail to acknowledge a friend thus, causing the friend to feel slighted or instead, they may extend a warm personal greeting to a stranger they have falsely identified as a friend [6]. ...
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Individuals with Stargardt disease, a rare eye disease, experience unique challenges with daily life. However, literature on psychological effects, potential areas of intervention, and gaps of care are sparse. This study explored these domains with a novel approach. Using grounded theory, we analyzed the expressive writing essays of 22 participants with Stargardt disease. Participants revealed frustration with the diagnosis process, loss of independence, social embarrassment, feeling misunderstood, and impact on their personal and professional lives. Positive experiences included effective coping strategies and social support networks. This study provides insight into the benefits of analyzing essays produced in expressive writing interventions among understudied populations. Results suggest communication between practitioners, patients, and their family is important especially during diagnosis. Future research and care providers could incorporate these findings in developing interventions to build patients' support systems and educate patient and families about the unique challenges of this rare disease.
... Stargardt disease (SD), a juvenile form of age-related macular degeneration (AMD), currently affects about 25,000 individuals in the United States [1]. SD is a primarily genetic recessive disorder that most typically has noticeable detrimental effects on central vision when the individual is between 10 to 20 years old [2]. Individuals with SD experience diminished central vision specifically in the macular region which is needed for sharp central vision. ...
... This commonly results in visual acuity between 20/100 and 20/400; thus, many people affected with this disease are legally blind [3]. Mied ziak and colleagues found that at the time of SD diagnosis, only about half of the sample felt they were adequately counseled [2]. Moreover, the majority of this sample reported depressive symptoms stemming from their vision loss. ...
... Although the ability to navigate remains somewhat intact for those with SD, they may be unable to make simple recognitions of objects in their central line of vision. One consequence is an inability to identify faces [2], a disability that can be socially stressful. Individuals may fail to acknowledge a friend thus, causing the friend to feel slighted or instead, they may extend a warm personal greeting to a stranger they have falsely identified as a friend [6]. ...
... 42 RP patients also adopt several strategies to cope with their visual fluctuations such as scheduling important activities later in the morning or waking up early to allow adequate time to adjust to their vision. 14 Sumi (2000) 219 VDQ/RP/retina specific RP/Japan/93 AL and MB Miedziak (2000) 140 SMDVQ/Stargardt disease/retina specific !8/SD/US/203 AL and MB Macular hole (MH) ...
... 42 RP patients also adopt several strategies to cope with their visual fluctuations such as scheduling important activities later in the morning or waking up early to allow adequate time to adjust to their vision. 14 Sumi (2000) 219 VDQ/RP/retina specific RP/Japan/93 AL and MB Miedziak (2000) 140 SMDVQ/Stargardt disease/retina specific !8/SD/US/203 AL and MB Macular hole (MH) ...
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... The small sample size, specific focus of the questions, lack of validation, and insufficient information given regarding the PRO questionnaire all limit the generalizability of these PROs for use in other studies. (35). The group created a PRO tool based on existing instruments and patient input. ...
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Patient-reported outcome (PRO) measures have the potential to uniquely capture patient experience and serve as an outcome measure in inherited retinal degeneration (IRD) gene therapy trials. An IRD-specific patient-reported outcome measure may yield valuable information that has not been obtained from inherited retinal dystrophy gene therapy trials published to-date. Existing PRO measures have inherent limitations for use in IRD gene therapy trials. Developing an applicable patient-reported outcome measure for such trials needs to incorporate patient input from the target population, demonstrate sound psychometric properties, and be made in accordance with U.S. Food and Drug Administration (FDA) guidelines. This review will discuss the currently available PRO instruments, their limitations for IRD therapeutic trials, and suggestions for future PRO development in IRD populations. The PRO instruments highlighted were identified in PubMed search of English-language journals and previously published review articles.
... Two questionnaires are not included in table II as no psychometric data were reported. [15,28] Key psychometric characteristics of valid instruments are reviewed in section 2.1 as well as the psychometric properties reported in the 20 instruments. Nonpsychometric properties are reviewed in section 2.2. ...
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Clinically objective measures such as visual acuity or visual field provide an assessment of a patient’s visual status. However such measures may not reflect the degree of visual impairment the patient experiences in his or her daily activities. Visual impairment has been shown to have negative effects on health-related quality of life (HR-QOL) and a significant impact on daily functioning, including social activities. As such, there is a growing recognition of the importance of patient-reported outcomes of visual functioning. This review examines the development and psychometric properties of 22 vision-specific instruments assessing visual functioning and/or the impact of visual impairment on HR-QOL or daily activities. Issues relevant to assessing vision-specific subjective outcomes are reviewed, with specific application of the reviewed instruments. Three instruments, the Activities of Daily Vision Scale, National Eye Institute Visual Function Questionnaire, and Visual Function Index have been well validated and widely used, but others also show promise. To fully capture the benefits of a new ophthalmology treatment (or new treatment for eye disease) a valid and reliable visual instrument, in which the psychometric performance has been demonstrated in the particular ocular condition being treated, should be utilised.
... Several patientreported outcome (PRO) measures have been developed for ophthalmic diseases (13)(14)(15)(16). Although one survey was developed to describe the perceived impact of STGD on patient's live (17), no PRO questionnaire has been developed and validated specifically for STGD. The results of the present research are discussed in light of available generic ophthalmic instruments. ...
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Background: Stargardt disease (STGD), a rare, inherited macular degeneration most commonly affecting children and young adults, is a rapidly progressive disease leading to severe central vision loss. This research aimed to develop a conceptual disease model describing STGD symptoms and their impact on patients’ lives. Material and Methods: Qualitative interviews were conducted with patients (juvenile and adult) and parents of children and adolescents with STGD. Interviewed subjects were enrolled through ophthalmologists from specialized eye centers in the USA and in France. Trained interviewers used semi-structured techniques to elicit concepts relevant to patients and their parents. Thematic analysis of interview transcripts led to the identification of concepts which were organized to generate a disease model. Results: A total of 21 patients (12 in the US; 9 in France) - 14 adults, 7 juveniles - and 7 parents were interviewed. The most cited ocular symptoms were photosensitivity and central vision decline. Interviewees reported limitations on Physical (e.g. difficulty with sports/physical activities), Mental (e.g. frustration and worry, reduced ability to concentrate), Social (e.g. issue with facial recognition and difficulty discussing disease) and Role (e.g. impact on driving and reading, difficulties at school/work) functioning. These impacts were, when possible, mitigated by coping strategies and support (e.g. using electronic devices, setting up routines or accepting the disease). Conclusions: This research provides an overview of symptoms experienced by patients with STGD and highlights the dramatic impact these have on patients’ lives, allowing the identification of concepts of importance when evaluating new therapeutic options for STGD.
... 8 Of the 17 PRO instruments, 11 studies relate to hereditary retinal disorders (nine to retinitis pigmentosa, one to congenital stationary night blindness, one to Stargardt's macular dystrophy), three relate to macular hole, and one relates to cytomegalovirus retinitis. [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] These PRO instruments were mostly developed using traditional methods of psychometric assessment (i.e. Classical Test Theory). ...
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