Psychiatric aspects of ophthalmic disorders: A narrative review.

Ophthalmic disorders have psychiatric aspects associated with them at various levels. Psychological factors have a well-documented role in the causation, aggravation, and maintenance of various ophthalmic conditions, including glaucoma, central serous retinopathy, dry eye disease, and retinitis pigmentosa. Many ophthalmic conditions, including blindness, have psychological manifestations as well, which need to be addressed, in addition to the ophthalmic pathology. There is also significant overlap in the treatment of the two disciplines in many ways. For instance, many ophthalmic drugs have psychiatric side effects. Even ophthalmological surgeries have psychiatric aspects associated with them, which primarily include black patch psychosis and anxiety in the operation theater. This review will be useful for psychiatrists and ophthalmologists, for their clinical practice and research. Future research should focus on this interface to give it its well-deserved attention.

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

INTRODUCTION: RLBP1 RP is an autosomal recessive form of retinitis pigmentosa (RP), characterized by night blindness, prolonged dark adaptation, constricted visual fields and impaired macular function. This study aimed to better understand the patient experience of RLBP1 RP and evaluate the content validity of existing patient reported outcome (PRO) instruments in this condition. METHODS: Semi-structured concept elicitation and cognitive debriefing interviews were conducted with RLBP1 RP patients in Canada and Sweden. Interviews started with open-ended concept elicitation questioning, and then patients were cognitively debriefed on The National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25), the Low Luminance Questionnaire (LLQ) and four light/dark adaptation items of the Visual Activities Questionnaire (VAQ). Qualitative interviews were also conducted with three expert clinicians. Anonymized, verbatim transcripts were analyzed using thematic analysis. RESULTS: Twenty-one patients were interviewed (Canada n = 10; Sweden n = 11). Symptoms reported included night blindness (n = 21), difficulty adapting to changes in lighting (n = 21) and difficulties seeing in bright lighting (n = 18). Patients experienced substantial impacts on daily activities (n = 21) and physical functioning (n = 17). Patients had difficulty interpreting and selecting a response for some items in the NEI VFQ-25 and LLQ. Some items were not relevant to patients' disease experience. There were both gaps and overlaps in the conceptual coverage of the instruments. CONCLUSIONS: Visual impairment due to RLBP1 RP has a substantial impact on physical functioning and daily activities. To adequately assess all important symptoms and associated functional impacts in RLBP1 RP, it is recommended to either modify one or more existing instruments or to develop a new non-syndromic RP specific instrument.

Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life.

BACKGROUND: Retinitis pigmentosa (RP) are a group of incurable and inherited eye conditions, and the leading cause of inherited blindness in people under the age of 60. The aim of this systematic review and meta-synthesis was to present a comprehensive overview of qualitative papers on experiences and coping strategies of adults living with RP, and how these influence quality of life. METHODS: A pre-registered search strategy was applied in nine databases and 12 articles met eligibility criteria. Studies included were from Australia, Brazil, Ireland, Netherlands, Republic of Korea, United Kingdom, and USA. The overall sample was based on 126 people with RP (ages ranging from 18 to 85; at least 65 female). Principles of meta-ethnography were used to synthesise the articles revealing five higher-level meta-themes. RESULTS: The five higher-level meta-themes were, 1) managing identity: making sense of RP, managing autonomy and independence; 2) living with RP: practical and emotional issues; 3) experiences with healthcare professionals and other social support; 4) adaptive and maladaptive coping strategies; and 5) impact of RP on work and career. A conceptual model was developed by grouping higher-level meta-themes as intra- and inter-individual factors and how they may be implicated with coping strategies and quality of life. CONCLUSIONS: This review established factors that can be explored as potential psychosocial influences in the relationship between coping strategies and quality of life in people with RP. Further understanding of these factors and mechanisms can help inform intervention development to support adaptive coping in living with RP and positively impact quality of life.

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.

Personal disability identity in retinitis pigmentosa.

PURPOSE/OBJECTIVE: Personal disability identity (PDI) refers to a positive self-concept as a person with a disability. This study examined the reliability and structural validity of scores on the Personal Disability Identity Scale (PDIS; Hahn & Belt, 2004) and correlates of PDI in adults with retinitis pigmentosa (RP). Research Method/Design: Two hundred six adult participants with RP completed a cross-sectional online survey measuring PDI, general self-efficacy, mobility tool use, age at diagnosis, education level, and demographic variables. RESULTS: Confirmatory factor analysis (CFA) supported a two-factor model of PDI: denial of disability and affirmation of disability. Findings from multiple linear regression indicated that lower disability denial in individuals with RP was associated with higher general self-efficacy. Both disability denial and disability affirmation were associated with use of mobility tool, but not with age at diagnosis. CONCLUSIONS/IMPLICATIONS: Future research on disability identity may benefit from a separate consideration of disability denial and disability affirmation. Lower disability denial predicts higher general self-efficacy in RP. Clinical implications include supporting personal disability acceptance rather than attempting to "normalize" individuals with disabilities. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Quantitative analyses of factors related to anxiety and depression in patients with retinitis pigmentosa.

The purpose of this study is to determine the factors related to anxiety and depression in patients with retinitis pigmentosa (RP). The status of anxiety and depression was determined in RP patients with the Hospital Anxiety and Depression Scale (HADS) questionnaire which consisted of subscales for HADS-anxiety (HADS-A) and HADS-depression (HADS-D). The vision-specific quality of life (VSQOL) was assessed with the National Eye Institute Visual Function Questionnaire 25 (NEI-VFQ25). The correlations between the HADS-A or HADS-D scores and vision-related clinical parameters such as the best-corrected visual acuity (BCVA), Functional Acuity Score, Functional Field Score, Functional Vision Score, the NEI- VFQ25 subscale score were determined. The socioeconomic status, such as the work status and membership in the RP society, was investigated to determine the factors related to the HADS-A and HADS-D scores. One hundred and twelve RP patients (46 men and 66 women) with mean age of 60.7±15.4 (standard deviation) years were studied. The HADS-A score was not significantly correlated with any visual functions but was significantly correlated with the general health condition (r = -0.34, P<0.001) and the role limitation (r = -0.20, P = 0.03) of the NEI-VFQ25 subscale. The HADS-D score was significantly correlated with all the visual functions (r = -0.38 to 0.29, P<0.001), the NEI-VFQ25 subscale score (r = - 0.58 to -0.33, P<0.001) by Spearman's correlations. The HADS-A score was significantly higher in the members of the RP society than in non-members (P = 0.013). The mean HADS-D score of employed individuals was significantly lower than that of unemployed ones (P = 0.001) by the Mann-Whitney U test. The results indicate that visual function impairments and vision-related quality of life are associated with a depressive state, and the general health condition is related to anxiety in RP patients. Being employed may be strongly correlated with the degree of depression in RP patients.

Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study.

BACKGROUND: Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at home with retinitis pigmentosa. METHOD: One hundred and five participants (70 female; meanage of 46.98, SD age = 13.77) completed a cross-sectional survey. The questionnaire booklet consisted of the Coping Strategies Inventory - Short Form (32 items), the National Eye Institute Visual Functioning Questionnaire 25 (25 items), Marylands Trait Depression Scale (18 items), the Warwick-Edinburgh Mental Well-being Scale (14 items), and the Subjective Happiness Scale (4 items). RESULTS: Data was analysed with a two-block hierarchical multiple regression, with the first block controlling for the demographic data (age, sex, years since retinitis pigmentosa diagnosis, number of comorbidities, participant-perceived retinitis pigmentosa severity, and knowing RP type) and the second block consisting of primary measures (type of coping strategy, VRQoL, and Emotional Health). Type of coping strategy was found to impact psychosocial variables of VRQoL, not overall VRQoL. These psychosocial VRQoL variables had a positive association with ECS and a negative association with DCS. Emotional Health increased with ECS and decreased with DCS. There was a larger impact of DCS on VRQoL and Emotional Health compared to ECS, that is, VRQoL and Emotional Health decreased more with increasing DCS than VRQoL, and Emotional Health increased with increasing ECS. CONCLUSION: In concordance with previous research, ECS increased with increasing VRQoL and DCS decreased with increasing VRQoL. However, the findings also indicated that DCS had a greater impact than ECS on VRQoL and Emotional Health. This suggests that diminishing DCS should be prioritised over developing ECS to positively influence VRQoL and Emotional Health. Further research should investigate the impact of reducing DCS compared to increasing ECS, and how this may influence VRQoL and Emotional Health.

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.

PURPOSE: To determine the relationship between visual function and quality of life, education, mental health, and employment among young adults with retinitis pigmentosa (RP). DESIGN: Cross-sectional study. METHODS: Inclusion of 148 patients (mean age 38.2 ± 7.1 years) diagnosed with RP, living in France. Quality of life was assessed using the National Eye Institute Visual Function Questionnaire (VFQ-25), mental state with the Hospital and Anxiety and Depression Scale (HADS), and employment with a specifically designed questionnaire. RESULTS: Limited visual impairment was noted in 22.3%, low vision in 29.7%, and legal blindness in 48.0%. There was a correlation between quality-of-life scores and residual visual field (P < .0001). Mental health scores were suggestive of anxiety in 36.5% and depression in 15.5%. The rates did not increase with disability level (P = .738, P = .134). The percentage of subjects with higher education did not significantly decrease with disability level (P = .113). The employment rate did not significantly decrease with disability level (P = .276). It was lower in subjects reporting depression (P = .0414). Self-rated impact of RP on employment increased with disability level (P = .02642). CONCLUSIONS: Our results differ from previous results showing lower education rates and employment rates in young adults with RP. Further research is warranted focusing on the impact of mental health, education, workplace conditions, and employment aids on employment rate vs age- and education-matched normally sighted controls to guide visual disability strategies in RP.

Seeing through their eyes: lived experiences of people with retinitis pigmentosa.

PurposeRetinitis pigmentosa (RP) is the most common retinal degeneration causing blindness. Although their clinical problems are amenable for the clinical diagnosis, their day-to-day problems for having to live with the disease are mostly unexplored. This study aims to explore and understand the issues and impact of people with RP on quality of life (QoL).MethodsA qualitative research methodology to facilitate the understanding of the experiences of people with RP was carried out. Data were collected through audio-recorded semi-structured interviews. Thematic analysis occurred through the process of line-by-line coding, aggregation, and theme development using the NVivo-10 software.ResultsTwenty-three interviews were conducted (mean age=56 years; females, 14). We identified five major QoL themes: (1) struggle to perform important day-to-day tasks; (2) concerns about disease progression, disease outcome and personal safety; (3) facing a lot of emotional and psychological challenges; (4) experiencing a myriad of visual symptoms; and (5) adopting different strategies to cope and manage stressful circumstances. Difficulty in performing important day-to-day tasks was the most prominent QoL issue among these people. Their major concerns were going blind and uncertainties about their future. They face a lot of emotional and psychological challenges to adapt to the physiological stress associated with the progressive vision loss. However, they adopt several coping strategies to manage the stressful circumstances.ConclusionsPeople with RP experience a myriad of QoL issues. Despite all the hardship, they remain optimistic and learn to accept their eye condition and move on in life.

Relación entre autoconcepto y nivel de depresión en personas con retinosis pigmentaria / Relationship between self-concept and depression level in people with retinitis pigmentosa

Investigaciones previas han resaltado dificultades en autoconcepto y presencia de depresión en personas con una patología degenerativa visual (retinosis pigmentaria), pero no se conoce si existe relación entre estas variables, la estimación del número de personas de apoyo en caso de necesidad y la edad; siendo éste el primer objetivo del estudio, realizado con 51 personas (36.5% hombres y 63.5% mujeres) (M edad = 41.85) que padecen esta problemática; y determinar, en segundo lugar, si el nivel de depresión influye en el autoconcepto. Se utilizó la Escala de Autoconcepto Tennesse (Fitts, 1965), el Inventario de Depresión de Beck (Beck, Rush, Shaw, y Emery, 1979) y un documento sociodemográfico. La correlación de Pearson revela que el número de personas de apoyo correlaciona con los factores de autoconcepto físico y personal, la edad con puntuaciones más altas en depresión, asociándose ésta a menores puntuaciones justo en los dos factores mencionados. El MANCOVA efectuado confirma que las personas con depresión se percibían más negativamente en todos los factores de autoconcepto. Se concluye recomendando prevenir la depresión y favorecer la mejora del autoconcepto con el fin de potenciar la competencia personal, calidad de vida y funcionamiento visual de esta población

Previous studies have highlighted difficulties in self-concept and the presence of depression in people with a degenerative visual pathology visual (Retinitis Pigmentosa), but it is not known if there is a relationship between these variables, the estimate of the number of support people in case of need and age; this being the first objective of the study, carried out with 51 people affected (36.5% men and 63.5% women) (M age = 41.85); and secondly, to analyze if depression level could influence some selfconcept factors. Instruments such as the Tennessee Self-Concept Scale (Fitts, 1965), the Beck Depression Inventory (Beck, Rush, Shaw, & Emery, 1979) and a sociodemographic questionnaire were used. A Pearson's correlation analysis revealed that the number of support people correlates with the factors of physical and personal self-concept, age is associated with higher scores on depression, associating this to lower scores in the two factors above-mentioned. The MANCOVA made confirms that people with higher level of depression were perceived more negatively in all selfconcept factors. It concludes recommending to prevent depression and to promote the improvement of the self-concept, in order to enhance the personal competence, the quality of life and visual functioning of this people

Vision function testing for a suprachoroidal retinal prosthesis: effects of image filtering.

OBJECTIVE: One strategy to improve the effectiveness of prosthetic vision devices is to process incoming images to ensure that key information can be perceived by the user. This paper presents the first comprehensive results of vision function testing for a suprachoroidal retinal prosthetic device utilizing of 20 stimulating electrodes. Further, we investigate whether using image filtering can improve results on a light localization task for implanted participants compared to minimal vision processing. No controlled implanted participant studies have yet investigated whether vision processing methods that are not task-specific can lead to improved results. APPROACH: Three participants with profound vision loss from retinitis pigmentosa were implanted with a suprachoroidal retinal prosthesis. All three completed multiple trials of a light localization test, and one participant completed multiple trials of acuity tests. The visual representations used were: Lanczos2 (a high quality Nyquist bandlimited downsampling filter); minimal vision processing (MVP); wide view regional averaging filtering (WV); scrambled; and, system off. MAIN RESULTS: Using Lanczos2, all three participants successfully completed a light localization task and obtained a significantly higher percentage of correct responses than using MVP ([Formula: see text]) or with system off ([Formula: see text]). Further, in a preliminary result using Lanczos2, one participant successfully completed grating acuity and Landolt C tasks, and showed significantly better performance ([Formula: see text]) compared to WV, scrambled and system off on the grating acuity task. SIGNIFICANCE: Participants successfully completed vision tasks using a 20 electrode suprachoroidal retinal prosthesis. Vision processing with a Nyquist bandlimited image filter has shown an advantage for a light localization task. This result suggests that this and targeted, more advanced vision processing schemes may become important components of retinal prostheses to enhance performance. ClinicalTrials.gov Identifier: NCT01503576.

Assistive peripheral phosphene arrays deliver advantages in obstacle avoidance in simulated end-stage retinitis pigmentosa: a virtual-reality study.

OBJECTIVE: The prospective efficacy of peripheral retinal prostheses for guiding orientation and mobility in the absence of residual vision, as compared to an implant for the central visual field (VF), was evaluated using simulated prosthetic vision (SPV). APPROACH: Sighted volunteers wearing a head-mounted display performed an obstacle circumvention task under SPV. Mobility and orientation performance with three layouts of prosthetic vision were compared: peripheral prosthetic vision of higher visual acuity (VA) but limited VF, of wider VF but limited VA, as well as centrally restricted prosthetic vision. Learning curves using these layouts were compared fitting an exponential model to the mobility and orientation measures. MAIN RESULTS: Using peripheral layouts, performance was superior to the central layout. Walking speed with both higher-acuity and wider-angle layouts was 5.6% higher, and mobility errors reduced by 46.4% and 48.6%, respectively, as compared to the central layout. The wider-angle layout yielded the least number of collisions, 63% less than the higher-acuity and 73% less than the central layout. Using peripheral layouts, the number of visual-scanning related head movements was 54.3% (higher-acuity) and 60.7% (wider-angle) lower, as compared to the central layout, and the ratio of time standing versus time walking was 51.9% and 61.5% lower, respectively. Learning curves did not differ between layouts, except for time standing versus time walking, where both peripheral layouts achieved significantly lower asymptotic values compared to the central layout. SIGNIFICANCE: Beyond complementing residual vision for an improved performance, peripheral prosthetic vision can effectively guide mobility in the later stages of retinitis pigmentosa (RP) without residual vision. Further, the temporal dynamics of learning peripheral and central prosthetic vision are similar. Therefore, development of a peripheral retinal prosthesis and early implantation to alleviate VF constriction in RP should be considered to extend the target group and the time of benefit for potential retinal prosthesis implantees.

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa.

INTRODUCTION: Retinitis pigmentosa (RP) is an inherited retinal disorder, characterized by photoreceptor degeneration inducing progressive vision loss. This study evaluates its impact on quality of life (QOL) and emotional states of patients affected by RP. METHODS: A cross-sectional study was conducted on 60 RP patients diagnosed with rod-cone dystrophy and on 20 control subjects. The RP population has been divided into 3 groups according to visual field (VF) and visual acuity (VA) impairments. Concurrently, scores of self-reported QOL (25-item National Eye Institute Visual Functioning Questionnaire) and of the Hospital Anxiety and Depression Scale for anxiety/depression assessments were collected. RESULTS: For the QOL composite score, we noticed consistent differences between all VF and VA affected groups and their control group. We also found significant differences between both the most affected VF group (VF1: ØVF <20°) and VA group (VA1: VA <0.3) compared to other VF and VA groups. For anxiety/depression scores, consistent differences have been found between the control group and VF1 and VA1, respectively. CONCLUSIONS: This work determines that, for RP patients, a significant QOL and emotional state deterioration correlates with a residual VF diameter below 20° and a VA lower than 0.3. It introduces, for the first time, thresholds to be used in visual restoration or visual preservation therapies to improve QOL of RP patients.

Psychological aspects and depression in patients with retinitis pigmentosa.

PURPOSE: To assess the psychological impact and the potential relationship between depression and visual impairment in patients with retinitis pigmentosa (RP). METHODS: Our study included 34 patients with RP and 35 age- and sex-matched controls. All participants underwent a thorough ophthalmic examination including best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, and dilated funduscopy, and they completed the Zung Depression Inventory questionnaire and the Patient Health Questionnaire-9 (PHQ-9). Questionnaires were rated according to specific guidelines. Statistical analysis was performed using SPSS 20.0 software. RESULTS: There was a statistically significant difference in PHQ-9 score and Zung score between patients with RP and controls. The BCVA differed significantly between the 2 groups as well. Older subjects presented significantly higher Zung score and PHQ-9 score, as well as worse BCVA in both eyes. Sex did not show any significant correlation as far as Zung score, PHQ-9 score, or BCVA. Zung score was correlated positively with PHQ-9 score, while both Zung and PHQ-9 score were positively correlated with BCVA. CONCLUSIONS: Patients with RP seem to present mild to moderate depressive symptoms in comparison with healthy control subjects without visual impairment. These symptoms were found to be correlated with BCVA and age, suggesting that visual loss and older age in patients with RP could be predictive factors of their emotional status. Therefore, there is need for close monitoring and supportive management of this population, so as to detect depression and to treat it promptly.

Long-term preservation of cone photoreceptors and visual acuity in rd10 mutant mice exposed to continuous environmental enrichment.

PURPOSE: In human patients and animal models of retinitis pigmentosa (RP), a gradual loss of rod photoreceptors and decline in scotopic vision are the primary manifestations of the disease. Secondary death of cones and gradual, regressive remodeling of the inner retina follow and progress at different speeds according to the underlying genetic defect. In any case, the final outcome is near-blindness without a conclusive cure yet. We recently reported that environmental enrichment (EE), an experimental manipulation based on exposure to enhanced motor, sensory, and social stimulation, when started at birth, exerts clear beneficial effects on a mouse model of RP, by slowing vision loss. The purpose of this study was to investigate in the same mouse the long-term effects of chronic exposure to an EE and assess the outcome of this manipulation on cone survival, inner retinal preservation, and visual behavior. METHODS: Two groups of rd10 mutant mice were maintained in an EE or standard (ST) laboratory conditions up to 1 year of age. Then, retinal preservation was assessed with immunocytochemistry, confocal microscopy examination, cone counts, and electron microscopy of the photoreceptor layer, while visual acuity was tested behaviorally with a Prusky water maze. RESULTS: rd10 mice are a model of autosomal recessive RP with a typical rod-cone, center to the periphery pattern of photoreceptor degeneration. They carry a mutation of the rod-specific phosphodiesterase gene and undergo rod death that peaks at around P24, while cone electroretinogram (ERG) is extinct by P60. We previously showed that early exposure to an EE efficiently delays photoreceptor degeneration in these mutants, extending the time window of cone viability and cone-mediated vision well beyond the phase of maximum rod death. Here we find that a maintained EE can delay the degeneration of cones even in the long term. Confocal and electron microscopy examination of the retinas of the rd10 EE and ST mice at 1 year of age showed major degeneration of the photoreceptor layer in both experimental groups, with small clusters of photoreceptors persisting in the peripheral retina. These vestigial cells were positive for L and M opsins and cone arrestin and represented the residual population of cones. In the retinas of the EE mice, cones were more numerous and less remodeled than in the ST counterparts, albeit virtually devoid of outer segments, as confirmed with electron microscopy (EM) observations. Cone counting in retinal whole mounts showed that rd10 EE mice at 1 year had almost three times as many surviving cones (34,000±4,000) as the ST control mice (12,700±1,800), t test p=0.003. Accordingly, the rd10 EE mice at 1 year of age were still capable of performing the visual water task in photopic conditions, showing a residual visual acuity of 0.138±0 cycles/degree. This ability was virtually absent in the rd10 ST age-matched mice (0.063±0.014), t test, p=0.029. No major differences were detected in the morphology of the neurons of the inner retina between the two experimental groups. CONCLUSIONS: The approaches used to test the effects of an EE were consistent in showing significantly better preservation of cones and measurable visual acuity in 1-year-old rd10 EE mice. We therefore confirm and extend previous findings that showed an EE is an effective, minimally invasive tool for promoting long-lasting retinal protection in experimental models of RP.

Caracterización de algunos estados emocionales en pacientes con retinosis pigmentaria típica en dos de sus estadios / Characterization of some emotional states in patients with typical retinitis pigmentary in two of its stages

La presente investigación se realizó con el objetivo de caracterizar los estados emocionales en pacientes con retinosis pigmentaria típica en sus dos primeros estadios que fueron atendidos en el Hospital Clínico Quirúrgico Arnaldo Milián Castro, de la Ciudad de Santa Clara, Provincia de Villa Clara, entre septiembre de 2011 y abril de 2012. Se partió tanto para el diseño metodológico como para el análisis de los resultados del paradigma mixto de investigación; se vincularon datos cuantitativos y cualitativos en la investigación psicológica. Se realizó un estudio de tipo descriptivo transversal en una muestra de 10 pacientes de cada uno de los dos primeros estadios de la enfermedad a partir de un muestreo de tipo probabilístico aleatorio simple; se establecieron criterios de inclusión y exclusión para conformar las muestras. La información para el estudio se obtuvo de la aplicación de distintos instrumentos psicológicos de exploración. Se concluyó que la depresión, seguida de la ansiedad, predomina por encima de los demás estados emocionales estudiados en ambos grupos, que ambas tuvieron su repercusión, principalmente, en el área personal de estos sujetos y que se encontraron una expectativa incierta del futuro y un grado importante de afectación psicológica. Los estados emocionales más fuertemente vivenciados se encontraron en el estadio II de la enfermedad estrechamente relacionados con su progresión; apareció también mayor afectación en sus relaciones sociales(AU)

Mental health of people with retinitis pigmentosa.

PURPOSE: The purpose of this study was to evaluate and compare the mental health of patients with retinitis pigmentosa (RP) with that of the general population of Korea. METHODS: Online surveys were completed by patients registered with the KRPS (Korean Retinitis Pigmentosa Society), an online organization that promotes research on RP and provides advocacy and online and offline support and information for patients with RP. Control population was selected from the fourth round of the KNHANES (Korean National Health and Nutrition Examination Survey). One hundred eighty-seven patients with RP were matched with the control population using the propensity-score method to optimize comparative analysis. RESULTS: Stress was reported in 51.9% of RP patients and 29.4% of controls (p < 0.001). Depressive mood of at least 2 weeks' duration in the previous year was reported by 34.8 and 17.1% of patients and controls, respectively (p < 0.001). Suicidal thoughts were reported by 38.5 and 12.9% of patients and controls, respectively (p < 0.001), although there was no significant difference in the number of suicide attempts between the groups (2.1 vs. 1.6%, p = 0.703). In multivariate analysis, disability rating was significantly associated with stress (adjusted odds ratio, 0.46; 95% confidence interval, 0.24 to 0.88). CONCLUSIONS: People with RP had poorer mental health than the general population. Further investigations are warranted on the mental health of RP patients, and appropriate welfare services are needed to decrease the impact of mental illness in this population.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic behavior, microcephaly, epilepsy, ophthalmoplegia, and ataxia. Progressive cerebellar atrophy with motor regression is a remarkable feature in some patients. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation. The infantile phenotype suggested pervasive developmental disorder, then profound mental retardation ensued. In later childhood, progressive cerebellar atrophy was diagnosed on serial brain MRIs and motor regression occurred. Furthermore, ophthalmological evaluations showed a retinitis pigmentosum previously unreported in this condition. We conclude that the natural history of the disease in this patient tends to confirm the degenerative nature of Christianson syndrome, and that retinal degeneration may be part of the condition. Before the onset of degeneration, the syndromic association of severe mental retardation, autistic behavior, external ophthalmoplegia, and facial dysmorphism in male patients is a clue to the diagnosis.

Emotional wellbeing of blind patients in a pilot trial with subretinal implants.

BACKGROUND: Participation in first human applications of retinal neuroprosthesis may create psychological stress for blind retinitis pigmentosa patients. The aim of this study was to assess the emotional wellbeing of patients undergoing implantation of a subretinal implant. METHODS: Nine blind patients participating in a pilot trial with subretinal implants were enlisted. The Brief Symptom Inventory (BSI), a short self-report scale of nine primary symptoms, was used to assess reaction to the psychological distress related to study participation. The number and the intensity of symptoms were analysed, and global scores for overall psychological distress (tGSI), severity of reported symptoms (tPDSI), and level number of self-reported symptoms (tPST) were calculated. The questionnaire was administered before implantation, 2-3 times during the trial and before explantation. RESULTS: There were no significant alterations during the trial for the average scores of the nine primary symptoms. One patient, however, showed values higher than the norm, for six subscores before implantation and for eight subscores before explantation. A significant improvement was found in both the overall psychological distress level (tGSI) and the severity of reported symptoms (tPDSI) at the final visit, compared to those at the study start. The number of self-reported symptoms (tPST) was not significantly altered. CONCLUSION: In the first ongoing pilot trial with an active, cable-bound subretinal implant, we found that trial participation and the implant procedure and subsequent testing did not have any adverse effects on the participants' emotional wellbeing. Their distress generally improved during study participation, rather than showing signs of decreased wellbeing.