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1.
Strabismus ; 32(1): 11-22, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38311572

ABSTRACT

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.


Subject(s)
Amblyopia , Visual Acuity , Humans , Amblyopia/physiopathology , Amblyopia/therapy , Retrospective Studies , Visual Acuity/physiology , Child , Male , Female , Child, Preschool , Sensory Deprivation , Adolescent , Risk Factors , Vision, Low/etiology , Vision, Low/physiopathology , Vision, Low/diagnosis
2.
Sci Rep ; 12(1): 2807, 2022 02 18.
Article in English | MEDLINE | ID: mdl-35181704

ABSTRACT

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.


Subject(s)
Retinopathy of Prematurity/epidemiology , Toxoplasmosis, Ocular/epidemiology , Vision Disorders/epidemiology , Vision, Low/epidemiology , Adolescent , Adult , Aged , Brazil/epidemiology , Child , Child, Preschool , Cone-Rod Dystrophies/epidemiology , Cone-Rod Dystrophies/physiopathology , Diabetic Retinopathy/epidemiology , Diabetic Retinopathy/physiopathology , Female , Humans , Infant , Infant, Newborn , Macular Degeneration/epidemiology , Macular Degeneration/physiopathology , Male , Middle Aged , Retinitis Pigmentosa/epidemiology , Retinitis Pigmentosa/physiopathology , Retinopathy of Prematurity/physiopathology , Tertiary Care Centers , Toxoplasmosis, Ocular/physiopathology , Vision Disorders/physiopathology , Vision, Low/physiopathology , Young Adult
3.
Ophthalmology ; 129(2): 191-202, 2022 02.
Article in English | MEDLINE | ID: mdl-34624300

ABSTRACT

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.


Subject(s)
Eye Proteins/genetics , Retinoschisis/diagnosis , Retinoschisis/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Blindness/diagnosis , Blindness/physiopathology , Child , Child, Preschool , Electroretinography , Female , Follow-Up Studies , Genetic Association Studies , Humans , Infant , Male , Middle Aged , Ophthalmoscopy , Optical Imaging , Retina/diagnostic imaging , Retina/physiopathology , Retinal Photoreceptor Cell Outer Segment/pathology , Retinoschisis/physiopathology , Retrospective Studies , Tomography, Optical Coherence , Vision, Low/diagnosis , Vision, Low/physiopathology , Visual Acuity/physiology
4.
Acta Ophthalmol ; 100(1): e221-e232, 2022 Feb.
Article in English | MEDLINE | ID: mdl-33955668

ABSTRACT

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.


Subject(s)
Antihypertensive Agents/therapeutic use , Filtering Surgery/methods , Forecasting , Glaucoma/psychology , Intraocular Pressure/physiology , Quality of Life , Vision, Low/etiology , Adolescent , Adult , Cross-Sectional Studies , Female , Follow-Up Studies , Glaucoma/complications , Glaucoma/therapy , Health Status , Humans , Male , Prognosis , Registries , Retrospective Studies , Vision, Low/physiopathology , Vision, Low/therapy , Visual Acuity , Young Adult
5.
Turk J Ophthalmol ; 51(2): 83-88, 2021 04 29.
Article in English | MEDLINE | ID: mdl-33951895

ABSTRACT

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.


Subject(s)
Quality of Life , Vision, Low/psychology , Visual Acuity/physiology , Visual Fields/physiology , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Reading , Sickness Impact Profile , Surveys and Questionnaires , Vision, Low/physiopathology , Young Adult
6.
Optom Vis Sci ; 98(4): 310-325, 2021 04 01.
Article in English | MEDLINE | ID: mdl-33828038

ABSTRACT

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.


Subject(s)
Vision, Binocular/physiology , Vision, Low/physiopathology , Activities of Daily Living/psychology , Depth Perception/physiology , Humans , Quality of Life/psychology , Reading , Vision, Low/psychology , Visual Fields/physiology , Visual Perception/physiology , Visually Impaired Persons
7.
Optom Vis Sci ; 98(4): 334-340, 2021 04 01.
Article in English | MEDLINE | ID: mdl-33828043

ABSTRACT

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.


Subject(s)
Dry Eye Syndromes/diagnosis , Vision, Low/diagnosis , Adult , Aged , Aged, 80 and over , Dry Eye Syndromes/drug therapy , Dry Eye Syndromes/physiopathology , Female , Humans , Lubricant Eye Drops/administration & dosage , Male , Middle Aged , Retrospective Studies , Risk Factors , Tears/physiology , Vision, Low/physiopathology , Visual Acuity/physiology , Young Adult
8.
Sci Rep ; 11(1): 7602, 2021 04 07.
Article in English | MEDLINE | ID: mdl-33828124

ABSTRACT

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.


Subject(s)
Child Development/physiology , Down Syndrome/physiopathology , Adaptation, Psychological/physiology , Adolescent , Child , Child, Preschool , Cognition/physiology , Down Syndrome/metabolism , Executive Function/physiology , Female , Humans , Male , Netherlands , Vision, Low/physiopathology , Visual Acuity/physiology
9.
Arq. bras. oftalmol ; 84(2): 179-182, Mar,-Apr. 2021. tab, graf
Article in English | LILACS | ID: biblio-1153122

ABSTRACT

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)


Subject(s)
Humans , Child , Nystagmus, Pathologic/rehabilitation , Vision, Low/physiopathology , Visual Acuity , Visual Field Tests/instrumentation
10.
Ophthalmic Physiol Opt ; 41(2): 342-364, 2021 03.
Article in English | MEDLINE | ID: mdl-33733527

ABSTRACT

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.


Subject(s)
Biofeedback, Psychology/methods , Vision, Low/rehabilitation , Visual Acuity , Humans , Retina/physiopathology , Vision, Low/physiopathology
11.
Curr Eye Res ; 46(10): 1581-1588, 2021 10.
Article in English | MEDLINE | ID: mdl-33632033

ABSTRACT

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.


Subject(s)
Macular Degeneration/physiopathology , Reading , Vision, Low/physiopathology , Visual Field Tests/methods , Visual Fields/physiology , Aged , Aged, 80 and over , Female , Fixation, Ocular/physiology , Humans , Male , Middle Aged , Prospective Studies , Quality of Life , Vision Tests , Visual Acuity/physiology
12.
Ophthalmic Genet ; 42(3): 243-251, 2021 06.
Article in English | MEDLINE | ID: mdl-33594928

ABSTRACT

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.


Subject(s)
Amino Acid Transport Systems, Neutral/genetics , Eye Abnormalities/genetics , Fovea Centralis/abnormalities , Nystagmus, Congenital/genetics , PAX6 Transcription Factor/genetics , Vision, Low/genetics , Visual Acuity/physiology , Adolescent , Adult , Aged , Albinism/genetics , Astigmatism/genetics , Child , Child, Preschool , Cytoskeletal Proteins/genetics , Eye Abnormalities/diagnosis , Female , Humans , Infant , Male , Membrane Proteins/genetics , Myopia/genetics , Nystagmus, Congenital/diagnosis , Retrospective Studies , Slit Lamp Microscopy , Vision, Low/diagnosis , Vision, Low/physiopathology , Young Adult
13.
Ophthalmic Physiol Opt ; 41(2): 316-330, 2021 03.
Article in English | MEDLINE | ID: mdl-33590910

ABSTRACT

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.


Subject(s)
Depression/diagnosis , Optometrists/education , Self Concept , Surveys and Questionnaires , Vision, Low/complications , Adult , Depression/epidemiology , Depression/etiology , Female , Humans , Male , Middle Aged , Prevalence , United Kingdom/epidemiology , Vision, Low/physiopathology
14.
Ophthalmic Physiol Opt ; 41(2): 281-294, 2021 03.
Article in English | MEDLINE | ID: mdl-33533095

ABSTRACT

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.


Subject(s)
Color Vision/physiology , Lighting/standards , Reading , Sensory Aids/standards , Vision, Low/rehabilitation , Visual Acuity , Visually Impaired Persons/rehabilitation , Aged , Contrast Sensitivity/physiology , Female , Humans , Male , Middle Aged , Temperature , Vision, Low/physiopathology
15.
Ophthalmic Physiol Opt ; 41(2): 266-280, 2021 03.
Article in English | MEDLINE | ID: mdl-33533098

ABSTRACT

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.


Subject(s)
Adaptation, Psychological/physiology , Eyeglasses , Quality of Life , Sensory Aids/statistics & numerical data , Vision, Low/rehabilitation , Visual Acuity , Visually Impaired Persons/rehabilitation , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Reading , Vision, Low/physiopathology , Visually Impaired Persons/statistics & numerical data , Young Adult
16.
Ophthalmic Physiol Opt ; 41(2): 331-341, 2021 03.
Article in English | MEDLINE | ID: mdl-33481297

ABSTRACT

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.


Subject(s)
Quality of Life , Stress Disorders, Post-Traumatic/diagnosis , Stress Disorders, Post-Traumatic/etiology , Vision, Low/complications , Humans , Stress Disorders, Post-Traumatic/epidemiology , Vision, Low/epidemiology , Vision, Low/physiopathology
17.
Ophthalmol Retina ; 5(1): 23-31, 2021 01.
Article in English | MEDLINE | ID: mdl-33045457

ABSTRACT

PURPOSE: To analyze the principal cause for poor vision in eyes with best-corrected visual acuity (BCVA) of 20/200 or worse 2 years after neovascular age-related macular degeneration (nAMD). DESIGN: Prospective cohort study of participants enrolled in a clinical trial of oral supplements. PARTICIPANTS: Age-Related Eye Disease Study 2 (AREDS2) participants whose eyes began anti-vascular endothelial growth factor (VEGF) therapy for incident nAMD and had data available at 2 years. METHODS: Participants underwent refracted BCVA testing, ophthalmoscopic examination, and fundus photography at baseline and annual visits. Self-reports of anti-VEGF injections were collected. MAIN OUTCOME MEASURES: Principal cause of BCVA of 20/200 or worse at 2 years, detected on fundus photography grading. RESULTS: Of the 594 eligible eyes, the number with BCVA of 20/200 or worse at 2 years was 56 (9.4%). Mean BCVA was 14.9 letters (standard deviation [SD], 12.3 letters; Snellen equivalent, 20/500), versus 70.1 letters (SD, 12.8 letters; Snellen equivalent, 20/40) in the other group. Of the 55 eyes with fundus photography available at 2 years, 33 (60.0%) had central macular atrophy and 22 (40.0%) had central subretinal fibrosis assessed as the principal cause for poor vision. The group with poor BCVA had a higher proportion of non-White participants (8.9% vs. 1.7%; P = 0.006), lower BCVA 2 years earlier (mean, 38.0 letters [SD, 26.7 letters; Snellen equivalent, 20/160] vs. 71.8 letters (SD, 11.9 letters; Snellen equivalent, 20/40]; P < 0.0001), higher proportion with macular atrophy 2 years earlier (26.8% vs. 12.3%; P = 0.003), higher proportion with macular hemorrhage (25.5% vs. 13.2%; P = 0.014), and fewer anti-VEGF injections (7.6 vs. 10.2; P = 0.001). CONCLUSIONS: Visual acuity data and fundus photography were obtained in a clinical trial environment, but were related to anti-VEGF therapy given in routine clinical practice. At 2 years after starting anti-VEGF therapy, almost 1 in 10 eyes showed BCVA at the level of legal blindness. From fundus photography grading, the cause of poor vision appeared to be macular atrophy in 60% and subretinal fibrosis in 40%. These data may be useful in understanding the long-term limits to good vision in nAMD.


Subject(s)
Dietary Supplements , Macula Lutea/pathology , Vision, Low/etiology , Visual Acuity/physiology , Wet Macular Degeneration/complications , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Male , Middle Aged , Prospective Studies , Vision, Low/physiopathology , Wet Macular Degeneration/physiopathology , Wet Macular Degeneration/therapy
18.
Br J Ophthalmol ; 105(1): 17-21, 2021 01.
Article in English | MEDLINE | ID: mdl-32188677

ABSTRACT

PURPOSE: To describe the indications and prognosis for keratoplasty in eyes with severe visual impairment and blindness due to corneal diseases in India. METHODS: This hospital-based cross-sectional study included 1 057 215 new patients presenting to a multitier ophthalmology network from 2016 to 2018. All patients with a central corneal pathology and best corrected visual acuity of less than 20/200 in the affected eye(s) were identified as cases and grouped according to laterality. The main outcome measure was the prognosis for keratoplasty, based on the surgical indication. RESULTS: A total of 28 824 (2.73%) patients were identified with severe visual impairment or blindness due to corneal diseases; of which, 22 582 (78.3%) had unilateral and 6242 (21.7%) had bilateral affliction. Overall, 85% of the corneal pathologies were due to avoidable causes, which accounted for 97% and 63% of the unilateral and bilateral cases, respectively (p<0.0001). The most common aetiologies were microbial keratitis (27.2%) and corneal opacification (25.5%) in unilateral cases; and corneal opacification (38.2%) and ectasias (14.5%) in bilateral cases. Overall, 60.1% of affected eyes carried a fair to poor prognosis for keratoplasty. However, while in unilateral cases only 29.9% of eyes carried good to excellent prognosis for keratoplasty, in bilateral cases, 58% of eyes carried good to excellent prognosis for keratoplasty (p<0.0001). CONCLUSIONS: The indications and prognosis for keratoplasty varied greatly based on whether the affliction was unilateral or bilateral. Most of the eyes affected by corneal visual impairment or blindness, however, carried an unfavourable prognosis for keratoplasty.


Subject(s)
Blindness/surgery , Corneal Diseases/diagnosis , Keratoplasty, Penetrating , Vision, Low/surgery , Visually Impaired Persons/rehabilitation , Adult , Blindness/etiology , Blindness/physiopathology , Corneal Diseases/complications , Cross-Sectional Studies , Female , Humans , India , Male , Middle Aged , Prognosis , Vision, Low/etiology , Vision, Low/physiopathology , Visual Acuity/physiology
19.
Curr Eye Res ; 46(2): 271-276, 2021 02.
Article in English | MEDLINE | ID: mdl-32586142

ABSTRACT

PURPOSE: To evaluate the efficacy of a new laser imaging device that projects images onto functioning macular areas, to improve visual acuity (VA) in low-vision patients with macular diseases. METHODS: An interventional case series of consecutive patients with low vision in their right eyes (RE). RE VA was measured by showing the patients digits of various standard sizes and measuring their best-corrected VA (BCVA). Then, using the I.C.INSIDE device to project the same standard digits onto functioning macular areas. Patient's ability to recognize the digits with the I.C.INSIDE device was correlated with patient's performance using telescopic low-vision aids. The main outcome measure was change in VA with the different visual aids. RESULTS: Eleven patients (6 males and 5 females) with an average age of 75 ± 6.7 years and low vision in their RE due to macular diseases were included in the study. Baseline BCVA was 1.554 ± 0.50 logMAR. Low-vision aids improved mean VA in 10 patients to 0.64 ± 0.40 logMAR (p < .0001), further improvement was noticed in 8 patients to 0.35 ± 0.16 logMAR (p < .0001) using the laser device, but, three patients did not recognize any digit using the laser device. CONCLUSIONS: The I.C.INSIDE device significantly improved baseline VA in low-vision patients with macular diseases, using extra-foveal fixation.


Subject(s)
Low-Level Light Therapy/methods , Macular Degeneration/therapy , Reading , Vision, Low/therapy , Visual Acuity , Aged , Aged, 80 and over , Feasibility Studies , Female , Humans , Macular Degeneration/complications , Macular Degeneration/physiopathology , Male , Pilot Projects , Treatment Outcome , Vision, Low/etiology , Vision, Low/physiopathology
20.
Retina ; 41(2): 309-316, 2021 Feb 01.
Article in English | MEDLINE | ID: mdl-32404843

ABSTRACT

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.


Subject(s)
Endotamponade/methods , Macula Lutea/pathology , Retinal Detachment/diagnosis , Retinal Vessels/pathology , Silicone Oils/pharmacology , Vascular Remodeling , Vision, Low/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Female , Fluorescein Angiography/methods , Follow-Up Studies , Humans , Male , Middle Aged , Retinal Detachment/physiopathology , Retinal Detachment/surgery , Retinal Vessels/physiopathology , Retrospective Studies , Time Factors , Tomography, Optical Coherence/methods , Vision, Low/physiopathology , Visual Acuity , Young Adult
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