A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.

Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients' interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients' needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient's lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient's family embedding and its effect on concerns about disease prognosis and genetic information's family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients' lived illness experiences and family context.

Psychosocial impacts of Mendelian eye conditions: A systematic literature review.

The diagnosis of a heritable (Mendelian) eye condition can have a significant impact on patients and their families. Although a diverse group of conditions, many Mendelian eye conditions are early-onset, untreatable, progressive, and result in significant visual disability. To increase understanding of the challenges faced by this population, we review studies describing the psychosocial impacts of Mendelian eye conditions. Reduced mental health and quality of life and increased strain on relationships are common themes. We synthesize the evidence presented in this review to propose an overall model of illness factors, cultural factors, psychosocial impacts, and quality of life. Finally, we discuss implications for patient management and future research directions.

Cross-cultural validation of the Retinopathy Treatment Satisfaction Questionnaire status version (RetTSQs) in Serbian community: a cross-sectional study.

OBJECTIVE: Cross-cultural translation and validation of the Serbian version of the Retinopathy Treatment Satisfaction Questionnaire status version (RetTSQs). DESIGN: Cross-sectional study. SETTINGS: The study was conducted between June 2017 and June 2018 at tertiary care centre in Serbia, Belgrade. PARTICIPANTS: A total of 101 patients with diabetic retinopathy (DR) were included. All subjects were evaluated in two consecutive visits, the first during the initial contact to the clinic, while the second 4-6 weeks later. MAIN OUTCOME MEASURES: Validation of Serbian version of the RetTSQs was the major outcome. RESULTS: Cronbach alpha coefficient of the subscales ranged from 0.783 (positive scale) to 0.811 (negative scale) and for all domains it was excellent at α=0.829. The intraclass correlation coefficient was greater than 0.8 for all of the subscales. Univariable analyses revealed that age, gender, education, marital status and working status did not affect the RetTSQ scores, whereas participants with non-proliferative DR reported significantly higher treatment satisfaction (TS) than those with proliferative retinopathy (p=0.001). The group who received laser treatment scored significantly lower than the group without it (p=0.004) regardless of type of performed laser. Positive and statistically significant correlations were found between the RetTSQ score and most of the National Eye Institute Visual Functioning Questionnaire-25 subscales. CONCLUSION: Translated Serbian adaptation of the RetTSQs showed adequate psychometric characteristics as an acceptable, reliable and valid questionnaire. It was well understood by Serbian diabetic patients and it promises to be used in daily clinical work as an instrument for the assessment of TS for patients with DR.

Topical Review: Retinally Induced Aniseikonia.

SIGNIFICANCE: We review retinally induced aniseikonia, an underrecognized condition resulting from common retinal conditions that has a significant effect on quality of life. Optometrists can influence the timing of surgical intervention to mitigate the damage from delaying surgical intervention in patients whose other findings do not meet a surgeon's treatment threshold.Aniseikonia due to optical differences between the eyes occurs in 1 to 3.5% of the population and can hinder the quality of binocular vision. The less noted retinally induced aniseikonia is due to mechanical distortion and displacement of the retinal photoreceptors and occurs with disorders such as epiretinal membrane, reattached retinal detachment, macular hole, and macular edema. Despite that it was first reported in 1950 and its incidence continues to rise in the aging population, many eye care practitioners are unaware of this condition, which can persist or even be exacerbated after treatment as a contributing cause of binocular vision symptoms. The purpose of this report is to allow more eye care practitioners to become familiar with retinally induced aniseikonia. The review of the literature includes demographics and epidemiology, etiology, pathogenesis, diagnosis, results of treatment, prognosis, and case examples.

Identification and Evaluation of Items for Vitreoretinal Diseases Quality of Life Item Banks.

Purpose: We are developing item banks assessing the impact of retinal and vitreoretinal diseases (excluding age-related macular degeneration, diabetic retinopathy, and retinal detachment, covered elsewhere) on quality of life (QoL) for adults. This study outlines the first two phases of the multi-stage process: content development and item evaluation.Methods: We grouped retinal and vitreoretinal diseases into hereditary and acquired. Development of the item banks involved two phases: item identification and item evaluation. The items were extracted from three sources: (1) 17 pre-existing PRO instruments, (2) 4 qualitative studies and (3) 79 semi-structured interviews. Item evaluation involved three stages namely, binning (grouping) and winnowing (reduction), expert panel opinion and cognitive interviews.Results: The item identification phase yielded 1,217 items. After three sessions of binning and winnowing, items were reduced to a minimally representative set (n = 411) across nine QoL domains namely, activity limitation, emotional, social, health concerns, symptoms, economic, mobility, convenience, and coping. The hereditary group had a total of 345 items and the acquired group had a total of 257 items. After 23 cognitive interviews items were amended for hereditary diseases resulting in a final set of 345 items and 3 items were amended for acquired diseases, resulting in a final set of 254 items. Overall across nine domains 189 items were common to hereditary and acquired retinal and vitreoretinal diseases.Conclusion: As most of the items were unique to hereditary versus acquired retinal and vitreoretinal disease groups separate item banks are required to capture the QoL impacts for hereditary and acquired retinal and vitreoretinal diseases.

Low health literacy levels in patients with chronic retinal disease.

BACKGROUND: A patient's health literacy is fundamental for navigating the health system and managing disease. This study aimed to compare the health literacy levels of patients with chronic retinal disease in Denmark. METHODS: This cross-sectional questionnaire study used the validated HLS-EU-Q16 questionnaire to determine the health literacy of 225 patients with age-related macular degeneration (AMD), diabetic macular edema (DME) or retinal vein occlusion (RVO), receiving intravitreal treatment at the retinal clinic, Zealand University Hospital, Denmark. Patients were consecutively included as participants for the study. All patients had the option of having the survey read aloud to them. RESULTS: Health literacy levels between the patient groups did not differ significantly, however, the proportion of patients with poor health literacy was high-65% of AMD patients, 73% of DME patients, and 63% of patients with RVO. CONCLUSIONS: Low health literacy of patients with retinal disease signify a need for more health literacy research in the field of retinal diseases, to secure that patients have the timely and appropriate knowledge and competencies to manage their condition.

Attitudes of people with inherited retinal conditions toward gene editing technology.

BACKGROUND: The views of people with genetic conditions are crucial to include in public dialogue around developing gene editing technologies. This qualitative study sought to characterize the attitudes of people with inherited retinal conditions (retinitis pigmentosa [RP] and Leber congenital amaurosis [LCA]) toward gene editing. METHODS: Individuals with RP (N = 9) and LCA (N = 8) participated in semi-structured qualitative interviews about their experience with and attitudes toward blindness, and their views about gene editing technology for somatic, germline, and enhancement applications. RESULTS: Participants saw potential benefits from gene editing in general, but views about its use for retinal conditions varied and were influenced by personal perspectives on blindness. Those who felt more negatively toward blindness, particularly those with later onset blindness, were more supportive of gene editing for retinal conditions. Concerns about both germline and somatic editing included: the importance of informed consent; impacts of gene editing on social attitudes and barriers affecting blind people; and worries about "eliminating" blindness or other traits. CONCLUSION: People with RP and LCA have diverse attitudes toward gene editing technology informed by their own lived experience with disability, and many have concerns about how the ways in which it is discussed and implemented might affect them.

Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy.

BACKGROUND/AIMS: In rare diseases, health-related quality of life (HRQL) data can be difficult to capture. Given the ultrarare nature of RPE65-mediated inherited retinal disease (IRD), it was not feasible to recruit a patient sample and collect HRQL data prospectively. The objectives of this study were to develop health state descriptions of RPE65-mediated IRD, and to estimate associated patient utilities. METHODS: Vignette descriptions of IRD states were developed and then assessed to elicit utilities. The vignettes ranged from moderate vision loss through to hand motion to no light perception (NLP). Six retina specialists with additional expertise in IRDs provided a proxy valuation of the vignettes using generic measures of health-the 5-level version of EQ-5D-5L and Health Utility Index 3 (HUI3). The data were then scored using standard methods for each instrument. RESULTS: Weights from both HRQL measures revealed a large decline in scores with vision loss. The EQ-5D-5L weights ranged from 0.709 for moderate vision loss to 0.152 for hand motion to NLP. The HUI3 weights ranged from 0.519 to - 0.039, respectively. A decline was seen on both measures, and the degree of decline from moderate vision loss to NLP was identical on both (-0.56). CONCLUSION: This is the first study to report HRQL weights (or utilities) for health states describing different levels of vision loss in patients with IRD, specifically those with RPE65-mediated disease. The parallel decline in scores from the EQ-5D and HUI3 corroborates the substantial impact of progressive vision loss on HRQL.

Patient-reported prevalence of metamorphopsia and predictors of vision-related quality of life in vitreomacular traction: a prospective, multi-centre study.

OBJECTIVES: To report the prevalence and severity of metamorphopsia, estimate its impact on vision-related quality of life (VRQoL) and evaluate predictors of VRQoL in patients with vitreomacular traction (VMT). PATIENTS AND METHODS: A prospective, cross-sectional multi-centre study in the United Kingdom of 185 patients with VMT, with or without a full thickness macular hole (FTMH). Self-reported metamorphopsia was determined using the metamorphopsia questionnaire. VRQoL was assessed using the Visual Function Questionnaire (VFQ-25). Physicians recorded clinical and ocular characteristics in both eyes including a physician assessment of metamorphopsia. ANOVA and predicted least-squares means were used to estimate the impact of metamorphopsia on VRQoL. Predictors of VRQoL were assessed using ordinary-least-squares regression adjusting for clinically important variables. RESULTS: The prevalence of self-reported metamorphopsia was 69.7% (95% CI 62.6-76.3%) and was higher in eyes with a concomitant FTMH vs. without FTMH (85.4% vs. 64.2%). Physician assessment of metamorphopsia was 53.0% (95% CI: 45.5-60.3%). Comparing eyes with metamorphopsia vs. without metamorphopsia, the VFQ-25 composite score was lower (82.3 vs. 91.4), and mean VA (LogMAR) was worse (0.44 vs. 0.33). The largest difference in VFQ-25 scores was observed for near activities (metamorphopsia: 75.3, No metamorphopsia: 90.2). The adjusted model showed that metamorphopsia severity and age were significantly associated with lower VFQ-25 scores. CONCLUSION: Metamorphopsia was highly prevalent in patients with VMT and associated with significantly lower VRQoL. Physician assessment of symptoms underestimated the self-reported presence of metamorphopsia. Metamorphopsia severity acts as a predictor of impaired VRQoL, over and above decrements due to reduced vision.

Macular Damage, as Determined by Structure-Function Staging, Is Associated With Worse Vision-related Quality of Life in Early Glaucoma.

PURPOSE: Macular damage is common early in glaucoma and has previously been identified as a significant factor affecting vision-related quality of life (VRQoL) across the spectrum of glaucomatous damage. This report uses structure-function correlation to identify early macular damage and assess its relationship with the National Eye Institute Visual Function Questionnaire (NEI VFQ-25). DESIGN: Cohort study. METHODS: Setting: Institutional. STUDY POPULATION: Eighty-eight eyes of 44 participants with early open-angle glaucoma (24-2 mean deviation [MD] better than -6 dB). OBSERVATION PROCEDURE: Focal and diffuse macular defects were identified based on corresponding abnormal regions on probability maps from spectral-domain optical coherence tomography (SD-OCT) optic disc and macular cube scans, and 10-2 and 24-2 visual fields (VF). MAIN OUTCOME MEASURE: VRQoL, as measured by the NEI VFQ-25. RESULTS: Twenty-five of 44 (57%) "worse" eyes (defined by 24-2 VF MD) and 13 of 44 (31%) "better" eyes had macular damage. Mean (±standard deviation) MD of worse and better eyes were -3.03 dB (±2.3) and -1.15 dB (±1.7), respectively. Compared to those without macular damage, lower NEI VFQ-25 scores were seen in patients with macular damage in the worse eye (85.4 [± 9.0] vs 94.6 [± 3.3]; P = .0001) and the better eye (84.8 [± 11.1] vs 91.3 [± 6.3]; P = .017). Arcuate damage outside the macula did not affect VRQoL (better eye, P = .40; worse eye, P = .87). CONCLUSIONS: Early glaucomatous macular damage, as detected by abnormal topographic regions on measures of structure and function, is associated with decreased VRQoL. Arcuate damage outside the macula does not have an association with VRQoL in early glaucoma.

Developing an item bank to measure the coping strategies of people with hereditary retinal diseases.

PURPOSE: Our understanding of the coping strategies used by people with visual impairment to manage stress related to visual loss is limited. This study aims to develop a sophisticated coping instrument in the form of an item bank implemented via Computerised adaptive testing (CAT) for hereditary retinal diseases. METHODS: Items on coping were extracted from qualitative interviews with patients which were supplemented by items from a literature review. A systematic multi-stage process of item refinement was carried out followed by expert panel discussion and cognitive interviews. The final coping item bank had 30 items. Rasch analysis was used to assess the psychometric properties. A CAT simulation was carried out to estimate an average number of items required to gain precise measurement of hereditary retinal disease-related coping. RESULTS: One hundred eighty-nine participants answered the coping item bank (median age = 58 years). The coping scale demonstrated good precision and targeting. The standardised residual loadings for items revealed six items grouped together. Removal of the six items reduced the precision of the main coping scale and worsened the variance explained by the measure. Therefore, the six items were retained within the main scale. Our CAT simulation indicated that, on average, less than 10 items are required to gain a precise measurement of coping. CONCLUSIONS: This is the first study to develop a psychometrically robust coping instrument for hereditary retinal diseases. CAT simulation indicated that on an average, only four and nine items were required to gain measurement at moderate and high precision, respectively.

Economic evaluation of an e-mental health intervention for patients with retinal exudative diseases who receive intraocular anti-VEGF injections (E-PsEYE): protocol for a randomised controlled trial.

INTRODUCTION: Because of the great potential of vascular endothelial growth factor inhibitors (anti-VEGF) for retinal exudative diseases, an increased number of patients receives this treatment. However, during this treatment, patients are subjected to frequent invasive intravitreal injections, and the effects on reversing the process of vision loss are uncertain, which may have negative consequences for patients' mental health. One in three patients experience at least mild symptoms of depression/anxiety. To support patients in dealing with these symptoms, an e-mental health intervention (called E-PsEYE) has been developed. E-PsEYE is based on cognitive-behavioural therapy (CBT) and contains nine modules. A stepped-care model with three steps will be used to deliver the intervention: (1) providing information and psychoeducation, (2) when symptoms of depression/anxiety persist, guided CBT is offered and supported by social workers from low vision rehabilitation services and (3) when symptoms still persist, patients are referred to their general practitioner. METHODS AND ANALYSIS: An economic evaluation from a healthcare and societal perspective will be conducted alongside a multicentre randomised controlled trial in two parallel groups to evaluate whether E-PsEYE is cost-effective in comparison with usual care. Participants (n=174) will be 50 years or older, have retinal exudative diseases, receive anti-VEGF treatment and have mild symptoms of depression/anxiety (assessed prior to randomisation). Main outcome measures are: depression (Patient Health Questionnaire-9), anxiety (Hospital Anxiety and Depression Scale-Anxiety) and quality-adjusted life-years (determined with the Health Utility Index-3 and the EuroQol-5 dimensions). Five measurements take place: at baseline and after 3, 6, 9 and 12 months. ETHICS AND DISSEMINATION: The study has been approved by the Medical Ethics Committee of the VU University Medical Centre Amsterdam. It will provide new and essential information on the cost-effectiveness of an innovative intervention for a vulnerable population. Outcomes will be disseminated through peer-reviewed publications and conference presentations. TRIAL REGISTRATION: http://www.trialregister.nl, identifier: NTR6337.

Development of a new Rasch-based scoring algorithm for the National Eye Institute Visual Functioning Questionnaire to improve its interpretability.

BACKGROUND: The NEI VFQ-25 has undergone psychometric evaluation in patients with varying ocular conditions and the general population. However, important limitations which may affect the interpretation of clinical trial results have been previously identified, such as concerns with reliability and validity. The purpose of this study was to evaluate the National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25) and make recommendations for a revised scoring structure, with a view to improving its psychometric performance and interpretability. METHODS: Rasch Measurement Theory analyses were conducted in two stages using pooled baseline NEI VFQ-25 data for 2487 participants with retinal diseases enrolled in six clinical trials. In stage 1, we examined: scale-to-sample targeting; thresholds for item response options; item fit statistics; stability; local dependence; and reliability. In stage 2, a post-hoc revision of the scoring structure (VFQ-28R) was created and psychometrically re-evaluated. RESULTS: In stage 1, we found that the NEI VFQ-25 was mis-targeted to the sample, and had disordered response thresholds (15/25 items) and mis-fitting items (8/25 items). However, items appeared to be stable (differential item functioning for three items), have minimal item dependency (one pair of items) and good reliability (person-separation index, 0.93). In stage 2, the modified Rasch-scored NEI VFQ-28-R was assessed. It comprised two broad domains: Activity Limitation (19 items) and Socio-Emotional Functioning (nine items). The NEI VFQ-28-R demonstrated improved performance with fewer disordered response thresholds (no items), less item misfit (three items) and improved population targeting (reduced ceiling effect) compared with the NEI VFQ-25. CONCLUSIONS: Compared with the original version, the proposed NEI VFQ-28-R, with Rasch-based scoring and a two-domain structure, appears to offer improved psychometric performance and interpretability of the vision-related quality of life scale for the population analysed.

Assessment of patient-reported outcomes in retinal diseases: a systematic review.

Advances in the understanding of the genetic, molecular, and cellular biology of retinal diseases have led to the development of new treatments. These expanding treatment options demand appropriate outcome measures for studies of treatment benefit including patient-reported outcomes (PROs). A plethora of PRO instruments assess impacts of retinal diseases from the patients' perspectives. We review all the studies that implemented PRO assessment in retinal diseases and also discuss quality assessment of the PRO instruments. We also include qualitative studies that explored quality of life impact on people with retinal diseases. Most studies used PRO instruments not specifically developed for retinal diseases (non-disease specific), nor have they undergone comprehensive validation in this disease group. A few retina-specific PRO instruments are available, but they suffer from limited content coverage of quality of life. Finally, we discuss the need for a new comprehensive and technologically advanced PRO instrument to assess quality of life impacts in retinal diseases.

A case of recurrent, self-inflicted handheld laser retinopathy.

A 17-year-old young man presented with vision loss and discrete, bilateral foveal lesions. The patient returned 6 weeks later with worsening vision, prominent bilateral retinal lesions, and a full-thickness macular hole in the right eye consistent with recurrent self-inflicted handheld laser retinopathy. After instructing the family to remove the patient's access to laser pointers, follow-up examination revealed spontaneous closure of the macular hole but minimal vision improvement. Recurrent ocular exposure to handheld lasers can masquerade as an organic process in patients who withhold pertinent history. Clinicians should rely on the distinguishing features seen on examination and multimodal imaging to make the diagnosis of handheld laser retinopathy.

Relationship between Human Immunodeficiency Virus Neuroretinal Disorder and Vision-Specific Quality of Life among People with AIDS.

PURPOSE: Some human immunodeficiency virus (HIV)-infected individuals have evidence of optic nerve or retinal dysfunction that manifests as decreased contrast sensitivity, even with good best-corrected visual acuity (BCVA). This condition, termed HIV-related neuroretinal disorder (HIV-NRD), is a risk factor for vision impairment (BCVA <20/40), blindness (BCVA ≤20/200), and increased mortality. We investigated the effect of HIV-NRD on vision-specific quality of life (QOL). DESIGN: Cross-sectional analysis of data from a prospective, observational study. PARTICIPANTS: Individuals from the Longitudinal Study of the Ocular Complications of AIDS cohort who completed the National Eye Institute 25-item Visual Function Questionnaire (VFQ-25), had BCVA of 20/40 or better, and had no evidence of ocular opportunistic infection or cataract. METHODS: We compared QOL by HIV-NRD status, adjusting for potential confounding variables, using multiple linear regression. Among those with HIV-NRD, we assessed the relationship between VFQ-25 and the logarithm of contrast sensitivity (logCS), using Spearman correlation. We defined a minimum clinically important difference (MCID) as 1 standard error of measurement from a well-characterized, historical population of individuals with a variety of ophthalmic disorders. MAIN OUTCOME MEASURES: Subscales and composite VFQ-25 scores (0 = worst, 100 = best). RESULTS: A total of 813 individuals met study criteria. Those with HIV-NRD (n = 39 [4.8%]) had a lower mean composite score than those without HIV-NRD (81 vs. 89; P = 0.0002) and lower mean scores in the following subscales: near activities (77 vs. 86; P = 0.004), distance activities (85 vs. 91; P = 0.01), social functioning (89 vs. 96; P = 0.0005), mental health (75 vs. 87; P = 0.0001), dependency (81 vs. 94; P < 0.0001), driving (75 vs. 85; P = 0.02), color vision (90 vs. 97; P < 0.0001), and peripheral vision (85 vs. 91; P = 0.0496). Score differences for each of these subscales met criteria for MCID. Among those with HIV-NRD, there was a positive correlation between logCS and composite score (r = 0.36; 95% confidence interval, 0.04-0.60). CONCLUSIONS: HIV-NRD has a statistically significant and clinically meaningful association with decreased vision-specific QOL among people with AIDS and good BCVA.

Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy.

PURPOSE: Retinal gene therapy trials are currently ongoing in a small number of inherited retinal disorders and this number is expected to rise significantly. The aim of this study was to analyze the psychological aspects of patients with RPE65 deficiency awaiting potential enrollment in gene therapy trials. METHODS: Five patients with genetically proven RPE65 deficiency took part in this study. They were asked to complete the German versions of (i) the Patient Health Questionnaire (PHQ-D), (ii) the National Eye Institute Visual Function Questionnaire (NEI-VFQ), (iii) the Shared Decision Making Questionnaire (PEF-FB-9), and (iv) the Autonomy Preference Index (API-Dm), and in addition they took part in qualitative interviews. RESULTS: The evaluations of the questionnaires and the interviews showed that the patients have quite high information needs and wish to take part in medical decisions. The perspective to participate in gene therapy trials does not seem to cause pronounced worries. Only the insecurity about if and when enrollment in a trial takes place may be burdensome. DISCUSSION: This study generated important data about the psychological situation of patients awaiting potential enrollment in clinical trials, which can be used to improve patient care in the increasing number of future gene therapy trials around the world.

Cerebral malaria retinopathy predictors of persisting neurocognitive outcomes in Malawian children.

BACKGROUND: Neuropsychological sequelae from pediatric cerebral malaria (CM) have been well-documented. Although malaria-specific retinopathy during acute illness has become a defining criterion for CM, its relationship to neurocognitive sequelae has not been documented. This relationship is important if malaria-specific retinopathy reflects the possible brain neuropathogenesis leading to long-term neurocognitive deficits. METHODS: From 2008 to 2012, 49 Malawian children 4.5-12 years of age surviving retinopathy-positive CM (CM-R) were tested 1-6 yrs after illness with the Kaufman Assessment Battery for Children, 2 edition, the tests of variables of attention and the Achenbach Child Behavior Checklist. In an observational study of a cohort of cerebral malaria survivors, these neurocognitive and behavioral outcomes were statistically related to types and severity of retinopathy measures, while controlling for age, sex, body mass index, socioeconomic status and time interval between illness and testing. RESULTS: Worse scores for hemorrhages, papilledema, optic disk hyperemia, retinal whitening of macula and foveal annulus were associated with poorer Kaufman Assessment Battery for Children, 2 edition mental processing index and global scale scores. Disk hyperemia was also predictive of tests of variables of attention D prime overall attention performance (inattention) and commission errors (impulsivity). Few associations were found between retinopathy scores and Achenbach Child Behavior Checklist (emotional and behavioral) outcomes. CONCLUSIONS: We are the first to report the relationship between severity of malaria-specific retinopathy during acute illness in CM survivors and persisting neurocognitive problems. These findings support earlier studies documenting that severity of retinopathy during acute illness is medically prognostic in CM survivors. We extend these findings to include long-term neurocognitive outcomes.

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.

Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

BACKGROUND/AIMS: The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. METHODS: Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. RESULTS: Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). CONCLUSIONS: Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.