A paradigm for characterizing motion misperception in people with typical vision and low vision.

PURPOSE: We aimed to develop a paradigm that can efficiently characterize motion percepts in people with low vision and compare their responses with well-known misperceptions made by people with typical vision when targets are hard to see. METHODS: We recruited a small cohort of individuals with reduced acuity and contrast sensitivity (n = 5) as well as a comparison cohort with typical vision (n = 5) to complete a psychophysical study. Study participants were asked to judge the motion direction of a tilted rhombus that was either high or low contrast. In a series of trials, the rhombus oscillated vertically, horizontally, or diagonally. Participants indicated the perceived motion direction using a number wheel with 12 possible directions, and statistical tests were used to examine response biases. RESULTS: All participants with typical vision showed systematic misperceptions well predicted by a Bayesian inference model. Specifically, their perception of vertical or horizontal motion was biased toward directions orthogonal to the long axis of the rhombus. They had larger biases for hard-to-see (low contrast) stimuli. Two participants with low vision had a similar bias, but with no difference between high- and low-contrast stimuli. The other participants with low vision were unbiased in their percepts or biased in the opposite direction. CONCLUSIONS: Our results suggest that some people with low vision may misperceive motion in a systematic way similar to people with typical vision. However, we observed large individual differences. Future work will aim to uncover reasons for such differences and identify aspects of vision that predict susceptibility.

Recognition of facial expressions of emotions in tactile drawings by blind children, children with low vision and sighted children.

In the context of blindness, studies on the recognition of facial expressions of emotions by touch are essential to define the compensatory touch abilities and to create adapted tools on emotions. This study is the first to examine the effect of visual experience in the recognition of tactile drawings of facial expressions of emotions by children with different visual experiences. To this end, we compared the recognition rates of tactile drawings of emotions between blind children, children with low vision and sighted children aged 6-12 years. Results revealed no effect of visual experience on recognition rates. However, an effect of emotions and an interaction effect between emotions and visual experience were found. Indeed, while all children had a low average recognition rate, the drawings of fear, anger and disgust were particularly poorly recognized. Moreover, sighted children were significantly better at recognizing the drawings of surprise and sadness than the blind children who only showed high recognition rates for joy. The results of this study support the importance of developing emotion tools that can be understood by children with different visual experiences.

Performance on clinical outcomes, activities of daily living and user experience on head-mounted displays for people with vision impairment.

PURPOSE: To compare the objective performance, acceptance and usability of head-mounted displays (HMDs) to provide evidence-based data that could be used to increase the efficiency of device referrals based upon a person's vision loss and functional needs. METHODS: A cross-sectional, counterbalanced, individually controlled crossover study was performed on 15 adults with various eye conditions. Performance was measured when using four HMDs: eSight4, Eyedaptic EYE3, Eyedaptic EYE4 and IrisVision Inspire. Performance on clinical visual acuity tests and contrast were assessed, as well as vision-related activities of daily living (ADL) which were divided into three categories: Reading, Searching & Identifying and Eye-hand Coordination. User-experience was also assessed. Logistic regression analyses, Friedman one-way repeated measure analyses of variance by ranks and multivariate permutation testing were used for analysis. RESULTS: There was a significant improvement in visual acuity when using all devices. For contrast tasks, only the eSight4 and Eyedaptic EYE3 improved performance relative to baseline. For most Reading and Searching & Identifying tasks, the odds of being able to perform the tasks were significantly higher while using the devices. However, the actual performance with most devices (e.g., number of words read or reading speed) did not improve significantly over baseline for most tasks. For the Eye-hand Coordination tasks, participants performed equivalent to or significantly poorer than baseline when using the devices. No demographic or clinical predictors of outcomes were identified. Participants expressed dissatisfaction with the devices' effectiveness, acceptability and usability. CONCLUSIONS: While performance on clinical tests was better when using the devices, performance on most real-world ADLs was equal to or worse than baseline. No single device improved performance on all tasks, and performance on any one task was not improved with all the devices. The overall dissatisfaction with the devices paralleled the lack of objective improvement in the performance of real-world tasks.

Subnormal visual acuity after compliant amblyopia therapy: residual/refractory amblyopia or co-existing pathology? - a retrospective analysis.

Purpose: To assess the prevalence of alternate etiology/co-existing pathology among patients with amblyopia, and to characterize factors contributing to over-diagnosis of amblyopia. Methods: We retrospectively reviewed records of children (from 1 January 2016 to 31 December 2019) who were initially diagnosed as "amblyopia" but later an alternate diagnosis for subnormal vision was established. Patients who had a best corrected visual acuity (BCVA) of ≤20/32 (0.2 logMAR) after compliant amblyopia therapy were divided into 2 groups: those with refractory amblyopia (BCVA improvement from baseline <1 logMAR line) and residual amblyopia (BCVA improvement from baseline >1 logMAR line). Data was collected for presence/absence of amblyogenic risk factors, history, ocular examination, and investigations leading to the final alternate diagnosis. We analyzed the factors that contributed to the initial over-diagnosis of amblyopia using the diagnostic error evaluation and research (DEER) taxonomy tool. Results: During the study period, 508 children with an initial diagnosis of amblyopia met the study criteria. Among these 508 children, 466 were diagnosed to have amblyopia alone, while 26 children (5.1%, median age: 7 years, 17 boys: 9 girls) were revised to have an alternate diagnosis/co-existing pathology. These 26 patients comprised of 2 groups: children referred to us as amblyopia but rediagnosed to have an alternate diagnosis; and a second subset, initially diagnosed by us to have amblyopia, but later found to have alternate diagnosis/co-existing pathology. Subclinical optic neuritis (50%, 13 children), and occult macular dystrophy (OMD) (38.4%, 10 children) were the most frequent alternative diagnoses. Children with ametropic amblyopia (8/26, 30.7%) were most frequently misdiagnosed. Risk factors that led to an initial diagnosis of amblyopia were: high refractive error and heterotropia in 7 patients each (26.9%), anisometropia in 12 (46.1%), and prior pediatric cataract surgery in 4(15.3%). No improvement in BCVA in 21/26 (80.7%) children led to suspicion of co-existing etiology. Other clues were optic disc pallor (11), subnormal color vision (7), history of parental consanguinity in 7, and preceding febrile illness/rhinitis in 1 child. The DEER taxonomy tool suggested that the most common reasons for diagnostic errors were over-emphasis on amblyopia. Conclusion: Our study suggests that 5% of children diagnosed with amblyopia might have co-existing/alternate etiology. Most common co-existing etiologies were subclinical optic neuropathy, and OMD. No improvement in BCVA, subtle history and examination findings prompted further workup. Not considering co-existing etiologies was the most common reason for an initial overdiagnosis of amblyopia.

Causes of functional low vision in a Brazilian rehabilitation service.

There is limited information on functional low vision (FLV) in Latin America, especially in individuals under 50 years of age. In the present study, we retrospectively evaluated the medical records of 1393 consecutive subjects seen at a Brazilian tertiary rehabilitation service, from February 2009 to June 2016. We collected sociodemographic, clinical data, and information on optical aids and spectacle prescription. Subjects were divided into three age groups: 0 to 14 years old (children), 15 to 49 years old (young adults), and 50 years or older (older adults). The main etiologies leading to FLV in children were cerebral visual impairment (27.9%), ocular toxoplasmosis (8.2%), and retinopathy of prematurity (7.8%). In young adults, retinitis pigmentosa (7.4%) and cone/rod dystrophy (6.5%) were the most frequent, while in older adults, age-related macular degeneration (25.3%) and diabetic retinopathy (18.0%) were the leading causes. Our results indicate that preventable diseases are important causes of FLV in children in the area, and proper prenatal care could reduce their burden. The increasing life expectancy in Latin America and the diabetes epidemic are likely to increase the demand for affordable, people-centered rehabilitation centers, and their integration into health services should be planned accordingly.

Improving health-related quality of life in glaucoma during 11 years and its association with vision loss and treatment of the disease.

PURPOSE: To evaluate the impact of glaucoma on health-related quality of life (HRQoL) and mental health in the ageing population of Finland. METHODS: Altogether 7380 and 5774 Finnish individuals aged 30 years and older with known eye disease status were studied in 2000 and 2011, respectively, in two population-based surveys, including an 11-year follow-up of 4683 participants. Data on HRQoL (EQ-5D-3L, 15D), depression (BDI), psychological distress (GHQ-12) and eye disease diagnoses were obtained from self-reported assessments. Information on glaucoma was complemented with the medication, diagnosis and eye surgery data obtained from the Finnish Health Registries. Distance visual acuity was assessed using the Snellen eye chart test. In logistic regression analyses, data were corrected for age, gender and the most common comorbidities. RESULTS: Glaucoma patients with verified diagnosis (n = 192 in 2000, n = 202 in 2011) and individuals with self-suspected glaucoma (n = 100 in 2000, n = 41 in 2011) showed a significant decrease in their HRQoL. Glaucoma was also associated with worsened overall mental health based on BDI and GHQ-12 results. Visual impairment associated with glaucoma is the major determinant of the reduced HRQoL and mental health. Neither glaucoma medication nor glaucoma surgery affected these parameters. The impact of glaucoma on HRQoL and mental health diminished between 2000 and 2011 in a cross-sectional setting. The newly diagnosed glaucoma during the 11-year follow-up had a minimal effect on them. CONCLUSION: Glaucoma patients show reduced HRQoL and mental health, which is associated with vision loss regardless of the awareness or treatment of the disease. However, this effect seems to be diminishing over time, and the newly diagnosed glaucoma did not show a significant effect on either HRQoL or mental health.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

PURPOSE: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). DESIGN: Retrospective cohort study. PARTICIPANTS: Three hundred forty patients with XLRS from 178 presumably unrelated families. METHODS: This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence). MAIN OUTCOME MEASURES: Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings. RESULTS: Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's ρ = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G→A (p.(Glu72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]). CONCLUSIONS: Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found.

Comparison of Quality of Life Questionnaires in Patients with Low Vision

Objectives: To compare the quality of life assessed by the Low Vision Quality of Life Questionnaire (LVQOL) and National Eye Institute Visual Function Questionnaire (NEI VFQ-25) in patients with low vision. Materials and Methods: A total of 64 consecutive patients who presented to the Ankara University Low Vision Rehabilitation Department for the first time were included in the study. Patients aged 18 or older who had a best-corrected visual acuity of less than 20/60 or a visual field of equal to or less than 20° from the fixation point in the better eye were included. After examination, the patients were asked to complete the LVQOL and NEI VFQ-25 questionnaires. Results: A very strong correlation was found between the total scores of the two questionnaires. A strong correlation was found between the "distance vision" subscale score of LVQOL and "distance activities" subscale score of NEI VFQ-25. There was also a strong correlation between the "reading and fine work" subscale score of LVQOL and "near activities" subscale score of NEI VFQ-25. There was a weak correlation between the LVQOL total score and visual acuity. There were moderate negative correlations between age at disease onset and the total scores of the two questionnaires. Conclusion: Both the LVQOL and NEI VFQ-25 are able to quantify the quality of life of individuals with low vision and it is possible to compare the studies carried out with these two questionnaires which are validated in Turkish.

Topical Review: Assessment of Binocular Sensory Processes in Low Vision.

SIGNIFICANCE: This article summarizes the evidence for a higher prevalence of binocular vision dysfunctions in individuals with vision impairment. Assessment for and identification of binocular vision dysfunctions can detect individuals experiencing difficulties in activities including reading, object placement tasks, and mobility.Comprehensive vision assessment in low vision populations is necessary to identify the extent of remaining vision and to enable directed rehabilitation efforts. In patients with vision impairment, little attention is typically paid to assessments of binocular vision, including ocular vergence, stereopsis, and binocular summation characteristics. In addition, binocular measurements of threshold automated visual fields are not routinely performed in clinical practice, leading to an incomplete understanding of individuals' binocular visual field and may affect rehabilitation outcomes.First, this review summarizes the prevalence of dysfunctions in ocular vergence, stereopsis, and binocular summation characteristics across a variety of ocular pathologies causing vision impairment. Second, this review examines the links between clinical measurements of binocular visual functions and outcome measures including quality of life and performance in functional tasks. There is an increased prevalence of dysfunctions in ocular alignment, stereopsis, and binocular summation across low vision cohorts compared with those with normal vision. The identification of binocular vision dysfunctions during routine low vision assessments is especially important in patients experiencing difficulties in activities of daily living, including but not limited to reading, object placement tasks, and mobility. However, further research is required to determine whether addressing the identified deficits in binocular vision in low vision rehabilitative efforts directly impacts patient outcomes.

Low Vision and Dry Eye: Does One Diagnosis Overshadow the Other?

SIGNIFICANCE: The prevalence of dry eye disease and low vision increases with age; they share risk factors and can be the result of underlying common causes. They are generally studied separately; however, combining these perspectives is relevant for research on assistive technology given that sustained focus affects the tear film because of decreased blinking rates. PURPOSE: The objective of this study was to elucidate to which extent dry eye disease risk factors, signs, and symptoms are assessed in low vision patients who receive an eye examination as part of their vision rehabilitation services. METHODS: Using a retrospective chart review, dry eye disease risk factors, signs, or symptoms were extracted from 201 randomly selected files that contained an eye examination in the past 5 years from two vision rehabilitation centers. RESULTS: Demographic variables of charts from the two sites did not differ (mean visual acuity, 0.85 logMAR [standard deviation, 0.53; range, 0 to 2.3]; mean age, 71.2 years [standard deviation, 19 years; range, 24 to 101 years]). Fifty charts (25%) mentioned at least one dry eye disease symptom. Sixty-one charts (30.3%) reported systemic medications that can exacerbate dry eye disease, whereas 99 (49.2%) contained at least one systemic disease thought to contribute to dry eye disease symptoms; 145 (72.1%) mentioned at least one type of ocular surgery. Artificial tears were documented in 74 charts (36.8%). Few specific dry eye tests were performed, with the exception of corneal integrity assessment reported in 18 charts (8.95%). CONCLUSIONS: Low vision patients have multiple risk factors for dry eye disease; however, dry eye disease tests were not frequently performed in comprehensive low vision eye examinations in this sample. More efforts should be made to assess dry eye disease to enhance comfort and functional vision, especially with the increasing demands of digital devices as visual aids.

Differences between children with Down syndrome and typically developing children in adaptive behaviour, executive functions and visual acuity.

In children with Down syndrome (DS) development of visual, motor and cognitive functions is atypical. It is unknown whether the visual impairments in children with DS aggravate their lag in cognitive development. Visual impairment and developmental lags in adaptive behaviour and executive functions were assessed in 104 children with DS, 2-16 years, by comparing their adaptive behaviour, executive functions and visual acuity (distant and near) scores against published age-matched norm scores of typically developing children. Associations between these lags were explored. Mean (± SEM) differences to age-matched norms indicated reduced performance in DS: Vineland Screener questionnaire, - 63 ± 3.8 months; task-based Minnesota Executive Function Scale (MEFS), - 46.09 ± 2.07 points; BRIEF-P questionnaire, 25.29 ± 4.66 points; BRIEF parents' and teachers' questionnaire, 17.89 ± 3.92 points and 40.10 ± 3.81 points; distant and near visual acuity, 0.51 ± 0.03 LogMAR and 0.63 ± 0.03 LogMAR (near - 0.11 ± 0.04 LogMAR poorer than distant). Adaptive behaviour (Vineland-S) correlated with the severity of visual impairment (r = - 0.396). Children with DS are severely impaired in adaptive behaviour, executive functions and visual acuities (near visual acuity more severely impaired than distant visual acuity). Larger impairment in adaptive behaviour is found in children with larger visual impairment. This supports the idea that visual acuity plays a role in adaptive development.

Visual outcomes of audio-luminous biofeedback training for a child with idiopathic nystagmus / Desfechos visuais de treinamento de biofeedback audioluminoso em criança com nistagmo idiopático

ABSTRACT Microperimetry biofeedback training is a vision rehabilitation method that involves the training of attention and oculomotor control, and the rehabilitation of poorly located and non-functional preferred retinal loci. It can significantly improve distance and near visual acuity in age-related macular degeneration. Previous studies have shown that biofeedback training using electrical nystagmography can reduce nystagmus amplitude and increase foveation time. However, these improvements have not been sustained following training sessions. We hereby report a pediatric case of idiopathic nystagmus in an 11-year old patient treated with microperimetric biofeedback to improve visual acuity and fixation stability. The training had a beneficial impact, positively affecting fixation stability as well as distance and near reading vision. Subjectively, improvement in quality of life was also reported. Conversely to previous studies, the positive effects in this case were maintained for as long as twelve months following therapy. To the best of our knowledge, this is the first case with long-term benefits to be reported in the literature.(AU)

RESUMO O treinamento de biofeedback por microperimetria é um método de reabilitação da visão que envolve treinamento de atenção, controle oculomotor e reabilitação do locus preferencial de fixação da retina. Esse treinamento pode melhorar significativamente a acuidade visual para longe e perto na degeneração macular relacionada à idade. Estudos anteriores mostraram que o treinamento de biofeedback usando a nistagmografia elétrica pode reduzir a amplitude do nistagmo e aumentar o período de foveação. Entretanto, os resultados não se mantiveram após o término das sessões. Aqui é relatado um caso de tratamento com biofeedback por microperimetria para melhorar a acuidade visual e a estabilidade de fixação em uma criança de 11 anos de idade. O treinamento teve impacto benéfico e afetou positivamente a estabilidade da fixação e a visão para longe, para perto e de leitura. Subjetivamente, foi relatada melhoria da qualidade de vida. Em contraste com estudos anteriores, os efeitos positivos foram mantidos até 12 meses após a terapia. Até onde sabemos, este é o primeiro caso na literatura que relata benefícios de longo prazo.(AU)

Biofeedback stimulation in the visually impaired: a systematic review of literature.

BACKGROUND: It is estimated that approximately 1.3 billion people live with some form of distance or near visual impairment. Numerous studies have been carried out to evaluate the effects of biofeedback (BF) and establish if it could be a useful tool in vision rehabilitation for various eye diseases. OBJECTIVE: This systematic review aimed: 1) to examine the current evidence of BF efficacy for the rehabilitation of the visually impaired and 2) to describe methodological variations used in previous BF studies to provide recommendations for vision rehabilitation interventions. METHODS: A systematic review was conducted in the Medline, PubMed, Cochrane Library and Web of Science databases to collect documents published between January 2000 and May 2020. Of the 1,960 studies identified, 43 met the criteria for inclusion. The following information was collected from each study: sample size, control group, any eye disease, apparatus used, frequency and number of sessions of BF, main outcomes of training and whether a follow-up was conducted. The first group included studies published as scientific articles in peer-reviewed journals. The second group included abstracts of studies presented at peer-reviewed conferences. Publications were also grouped according to the eye disease treated. RESULTS: 25 articles and 18 peer-reviewed conference abstracts (PRCAs) were included in this review. BF stimulation is a commonly used technique for the treatment of visual impairment caused by macular disease. Most BF studies evaluate the effect of training on the preferred retinal locus (PRL), particularly with regard to fixation location and stability. Across these studies, participants who received BF intervention improved fixation stability and reading speed. High variability in the number of sessions and the duration of BF training was found. Most studies did not use a control group. CONCLUSIONS: The findings of this review present evidence for biofeedback treatment in vision rehabilitation, with improved oculomotor abilities. Currently, it is not possible to formulate evidence-based recommendations for a standard training procedure due to the poor quality of existing randomised controlled trials. High-quality studies are needed to develop standard protocols for a range of eye diseases.

Assessing optimal colour and illumination to facilitate reading.

PURPOSE: This study examined the effectiveness of the LuxIQ, the Apple iPad and a smart bulb in assessing optimal colour and illumination to facilitate reading in younger, older and visually impaired adults. METHODS: Participants read standardised texts at baseline (normal lighting/no device), then using the Apple iPad, LuxIQ and smart bulb, with their normal vision (20/20 condition) and using a simulated reduction in visual acuity/contrast sensitivity (20/80 condition). Visually impaired participants followed the same procedure used in the 20/80 condition. RESULTS: There was a significant interaction between condition and device in younger, F(1.5, 43.51) = 30.41, p < 0.001, ω2  = 0.34 and older, F(1.5, 4.51) = 4.51, p = 0.03, ω2  = 0.05 adults with normal vision, and there was a significant effect of device, F(2, 58) = 5.95, p = 0.004, ω2  = 0.12 in visually impaired adults. In the 20/20 condition, age and colour predicted reading speed, F(3, 176) = 36.25, p < 0.001, Adj. R2  = 0.37, whereas age, lighting and colour predicted reading speed, F(3, 176) = 36.25, p < 0.001, Adj. R2  = 0.37 in the 20/80 condition. In the visual impairment condition, lighting, colour and impairment severity predicted reading speed, F(3, 85) = 10.10, p < 0.001, Adj. R2  = 0.24. CONCLUSIONS: The clinical implications of this study are that reading speeds improve in individuals with low vision under improved lighting conditions, specifically, with higher levels of luminance and colour temperature. The effectiveness of the devices varied across groups; however, the LuxIQ was the only device to improve reading speeds from baseline in older adults with visual impairments.

Design considerations for the ideal low vision aid: insights from de-brief interviews following a real-world recording study.

PURPOSE: Low Vision Aids (LVAs) can have a transformative impact on people living with sight loss, yet the everyday requirements for developing such devices remain poorly understood and defined. This study systematically explored LVA requirements through a structured de-brief interview following a real-world self-recording study. The purpose of this work was to define the actual needs of those living with sight loss so that low vision services can better address them in future. METHODS: Thirty-two visually impaired volunteers with varying levels of previous LVA experience participated in a de-brief interview centred around a structured questionnaire. The de-brief followed a one-week real-world study during which participants used recoding spectacles to capture and narrate all situations in which they would use a 'perfect sight aid'. Content and thematic analyses were used to analyse interviews which had the purpose of contextualising these recordings and exploring requirements around psychological, functional and design factors. RESULTS: Participants reported that 46% of tasks which they had recorded were most important to them. Of these tasks, 82% were encountered frequently. Few tasks emerged as very important across many participants, the remaining tasks reflecting individual lifestyles or circumstances. Every participant used at least one LVA in their everyday life and 72% identified further coping strategies. Current LVAs identified as consistently poor were distance LVAs, with all other devices receiving mixed or only positive feedback. Around two-thirds of participants would prefer LVA use on an ad-hoc / quick access basis rather than over long periods of time, and just over half would prefer to carry it rather than wearing it all day. Lack of consistency in these responses illustrated potentially different user clusters with divergent design needs. Two-thirds of participants emphasised the desire for a discreet LVA that does not attract attention. However, since half of all participants felt self-conscious in public or in front of other people when wearing the small recording spectacles, this may not be technically achievable. CONCLUSIONS: There is a substantial opportunity for new LVAs to address visual needs that traditional devices and coping strategies cannot support. Functional, psychological and design factors require careful consideration for future LVAs to be relevant and widely adopted.

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.

Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for albinism).Methods: This is a retrospective, multicenter study of ophthalmic, systemic, and genetic features, as collected from medical records of patients diagnosed with infantile nystagmus and foveal hypoplasia. Ophthalmic findings include best-corrected visual acuity (BCVA), biomicroscopic examination, cycloplegic refraction, retinal examination, macular optical coherence tomography, and electroretinography. Genetic information was retrieved from the participating genetic clinics and included ethnicity and molecular diagnosis.Results: Thirty-one individuals met the inclusion criteria and had a secure molecular diagnosis. Mutations in two genes predominated, constituting 77.4% of all the represented genes: SLC38A8 (45.1%) and PAX6 (32.3%). Seventy-eight percent of the subjects who had a measurable BCVA had moderate and severe visual impairment (range 20/80 to 20/270). Most patients with a mutation in SLC38A8 had mild to moderate astigmatism, while most patients with PAX6 mutation had moderate and severe myopia. Patients in the PAX6 group had variable degrees of anterior segment manifestations.Conclusion: In our cohort, the main causative genes for congenital nystagmus and foveal hypoplasia in normally pigmented eyes were SLC38A8 and PAX6. A mild phenotype in PAX6 mutations may be an under-diagnosed cause of nystagmus and foveal hypoplasia. Reaching an accurate genetic diagnosis is essential for both the patients and their family members. This enables predicting disease prognosis, tailoring correct follow-up, and providing genetic counseling and family planning to affected families.

How Much Do Clinical and Microperimetric Findings Affect Reading Speed in Low Vision Patients with Age-related Macular Degeneration?

Purpose: To investigate the factors affecting the reading speed of patients with central scotoma due to age-related macular degeneration (AMD).Materials and Methods: We included 63 eyes of 63 patients with AMD who applied to our low vision clinic between August 2018 and September 2019 in this prospective study. We evaluated socio-demographic characteristics, eye examination findings and Minnesota Low Vision Reading Test (MNREAD) results. We used the MAIA microperimeter device to evaluate the properties of the preferred retinal locus for fixation (PRL) of the patients. Evaluations included the assessment of the effects of all parameters on reading speed.Results: The PRL was most commonly in the nasal (31%) and superior (26%) quadrants. Twenty-nine percent of the cases preferred the left visual field. PRL localization had no effect on reading speed, whereas, fixation stability, educational status, presence of foveal absolute scotoma, reading acuity and duration of reading interruption were found to have the most significant effects. Multiple regression analysis showed that reading speed decreased by 67 units in the presence of unstable fixation, by 17 units in the presence of foveal absolute scotoma, by 3 units with every 0.1 increase in logMAR value, and by 1.7 units with every 1-year increase in reading interruption. Additionally, being a university graduate was associated with an increased reading speed (by 18 units)Conclusion: Increased reading performance is one of the factors that can improve quality of life. The factors found to affect the reading speed in the current study may guide the rehabilitation process in low vision patients.

Training results in increased practitioner confidence and identification of depression in people with low vision: a mixed methods study.

PURPOSE: The prevalence of depression in people with low vision is high and often goes undiagnosed. There is the potential for those who provide low vision services to perform concurrent depression screening. However, prior training in depression identification and suitable referral pathways is required. The aims of this study were: (1) to assess the impact of a training programme on practitioners' confidence and behaviour in addressing depression in patients with low vision, and (2) to review the training programme and identify areas for further development. METHODS: A convergent mixed methods approach was used. Questionnaires were completed by practitioners pre-, immediately post- and 6 months post- training (n = 40) to assess practitioner confidence in approaching depression in patients with low vision. Qualitative interviews were performed with a subset of practitioners 6 months post-training (n = 9). Additionally, routine data from the Low Vision Service Wales (LVSW) database was used to determine the change in the number of practitioners identifying depression in patients, and the change in the number of patients identified at risk of depression 6 months post-training. RESULTS: Of the 148 practitioners who completed low vision assessments pre- and post-training, 28 (18.9%) documented risk of depression in their patients pre-training, which increased substantially to 65 (43.9%) post-training (p < 0.0001). Mixed methods analysis confirmed increased documentation of depressive symptoms by practitioners. Practitioner confidence increased following training, with 92.3% feeling more confident to approach emotional issues with patients and 92.2% intending to use the recommended screening tool to identify depression. Interviews provided insight into areas where confidence was still lacking. Quantitative questionnaires revealed that training content was considered appropriate by 91% of participants. Interviews confirmed these findings while expanding upon possibilities for programme improvement. CONCLUSIONS: Training for depression screening was found to be time-efficient and acceptable for LVSW practitioners and shown to increase practitioner confidence in the identification of depression. Additionally, the programme changed behaviour, resulting in an increase in the identification of depression in patients with low vision. However, this is a complex topic and ongoing development is required to embed depression screening as an integral part of low vision services.

The development of posttraumatic stress disorder in individuals with visual impairment: a systematic search and review.

PURPOSE: Posttraumatic stress disorder (PTSD) is a mental health problem with a negative impact on quality of life. Little is known about the relationship between PTSD and visual impairment. According to diagnostic criteria for PTSD, vision loss in itself is generally not considered as a traumatic event. PTSD in people with visual impairment is more likely to be the result of traumatic events, which are not directly related, or are only indirectly related to, visual impairment. The purpose of this systematic review was to describe and discuss the literature on the development of PTSD in people with visual impairment. METHODS: A literature search in PubMed, Embase, PsycINFO and Web of Science was performed up to 15 November 2019 in collaboration with a medical information specialist. Additional search strategies included hand searches of references of retrieved papers and free-text hand searches in Google Scholar. Thematic content analysis of the extracted data was carried out in order to identify main themes and subthemes. RESULTS: Findings from 13 articles are presented in a narrative manner along three main themes: (1) posttraumatic stress disorder; (2) traumatic events and (3) impact of traumatic events. People with visual impairments may be at higher risk of being exposed to certain potentially traumatic events. Limited/restricted access to situational information during events may contribute to the stressfulness of the experience. Furthermore, visual impairment may shape the impact of traumatic events. CONCLUSIONS: The current evidence suggests some unique experiences and challenges for people who are visually impaired. PTSD was prevalent in this population, and prevalence rates ranged from 4% to 50%. Future research may focus on gaining insight into the extent and burden of PTSD, and exploring help-seeking behaviour and treatment needs among those with visual impairment and PTSD.

VISUAL IMPAIRMENT AND MACULAR VASCULAR REMODELING SECONDARY TO RETROGRADE MACULOPATHY IN RETINAL DETACHMENT TREATED WITH SILICON OIL TAMPONADE.

PURPOSE: To assess the frequency of macular cysts (MCs) in retinal detachment treated with silicone oil and evaluate their impact on visual acuity and macular vascularization using optical coherence tomography-angiography. METHODS: Forty-three eyes of 41 patients treated with silicone oil for retinal detachment were retrospectively studied. Best-corrected visual acuity and 6- × 6-mm optical coherence tomography-angiography examination at least 3 months after silicone oil removal were reviewed. In eyes with MCs, cyst area was measured on the en face optical coherence tomography-angiography image using ImageJ. Density of superficial capillary plexus and area of superficial foveal avascular zone were generated by the optical coherence tomography-angiography. Density of deep capillary plexus and deep foveal avascular zone area were measured using ImageJ. RESULTS: Twenty-five eyes (58%) presented with MCs. Cysts were exclusively located in the inner nuclear layer in 60% of cases. Mean best-corrected visual acuity in the MC group was lower than that of the non-MC group (P = 0.012). Macular cyst area negatively correlated with best-corrected visual acuity (P = 0.0201). Density of superficial capillary plexus was higher in the MC group (P < 0.0001), whereas area of superficial foveal avascular zone was lower (P < 0.0001). Macular cyst area negatively correlated with density of deep capillary plexus (P < 0.001). CONCLUSION: The incidence of INL-MCs after silicone oil removal is high. These are associated with impaired vision and macular vascular remodeling. We highlight their similarity with the "retrograde maculopathy" phenomenon.