Ciliary muscle and anterior segment characteristics in pre-presbyopic adults with Down syndrome.

PURPOSE: Previous research has shown that accommodation deficits are common in individuals with Down syndrome (DS), but the origin and mechanisms behind these deficits are still unknown. The aim of this study was to investigate the characteristics of different ocular structures involved in accommodation, in particular the ciliary muscle (CM), in a population of individuals with DS to further understand this deficit and its mechanisms. METHODS: Thirty-two volunteer participants of pre-presbyopic age with (n = 16) and without DS (n = 16) were recruited. Temporal and nasal images of the CM were acquired using anterior segment optical coherence tomography (AS-OCT) while participants fixated an eccentrically located target. Analysis of CM parameters was undertaken using validated semi-automated software. Axial length, anterior chamber depth, lens thickness and corneal curvature were obtained with the Topcon Aladdin Optical Biometer and Corneal Topographer. Non-cycloplegic refractive error and accommodative ability were obtained with an open-field autorefractor and dynamic retinoscopy, respectively. Independent t-tests were conducted to determine differences in CM and other anterior segment parameters between participants with and without DS. RESULTS: No significant differences were found in the CM parameters studied between participants with and without DS (p > 0.05). In contrast, significant differences were found in visual acuity (p < 0.001), accommodative response (p < 0.001) and corneal curvature (K1 p = 0.003 and K2 p < 0.001) between participants with and without DS. CONCLUSIONS: Despite having poorer accommodation, pre-presbyopic adults with DS do not have a different CM morphology to that found in typically developing adults. These findings suggest that the accommodative deficit found in this population is not due to a mechanical deficit of the CM.

Voluntary Flutter Presenting During Ophthalmoscopy: A Case Report.

Voluntary flutter (sometimes known as "voluntary nystagmus") is a conjugate saccadic oscillation of the eyes that occurs in some healthy individuals. It has no relation to pathological nystagmus, which can manifest in infancy or become acquired later in life. This report presents an unusual case of voluntary flutter that presented in a 20-year-old male with autism spectrum disorder during ocular examination via direct ophthalmoscopy. Refraction and ocular motor balance were normal, and visual acuity was good in each eye (-0.10 logMAR). During direct ophthalmoscopy, a fine intermittent tremor was initiated. The patient was referred for further assessment, and eye movements were recorded at 1,000 Hz with an EyeLink 1000 eye tracker. Upon request, the patient could manifest voluntary flutter again and sustain the eye movements with effort during convergence. The voluntary flutter consisted of back-to-back saccadic oscillations in a predominantly horizontal direction, with an average frequency of 13 Hz and an amplitude of ∼8°, both reducing over time. We speculate that the discomfort induced by the proximity of the clinician during direct ophthalmoscopy examination may have triggered the eye oscillations. Although the oscillations typically manifest during convergence, atypical forms of voluntary flutter can also occur during divergence. Voluntary flutter can be a useful differential diagnosis in patients with a recently onset apparent "nystagmus," and no other neurological signs and symptoms.

Visual and Refractive Status of Children With Down's Syndrome and Nystagmus.

Purpose: Children with Down's syndrome (DS) are known to have poorer visual acuity than neurotypical children. One report has shown that children with DS and nystagmus also have poor acuity when compared to typical children with nystagmus. What has not been established is the extent of any acuity deficit due to nystagmus and whether nystagmus affects refractive error within a population with DS. Methods: Clinical records from the Cardiff University Down's Syndrome Vision Research Unit were examined retrospectively. Binocular visual acuity and refraction data were available for 50 children who had DS and nystagmus and 176 children who had DS but no nystagmus. Data were compared between the two groups and with published data for neurotypical children with nystagmus. Results: The study confirms the deficit in acuity in DS, compared to neurotypical children, of approximately 0.2 logMAR and shows a deficit attributable to nystagmus of a further 0.2 logMAR beyond the first year of life. Children with both DS and nystagmus clearly have a significant additional impairment. Children with DS have a wide range of refractive errors, but nystagmus increases the likelihood of myopia. Prevalence and axis direction of astigmatism, on the other hand, appear unaffected by nystagmus. Conclusions: Nystagmus confers an additional visual impairment on children with DS and must be recognized as such by families and educators. Children with both DS and nystagmus clearly need targeted support.

Behavioural Features of Cerebral Visual Impairment Are Common in Children With Down Syndrome.

It is widely recognised that children with Down syndrome have a broad range and a high prevalence of visual deficits and it has been suggested that those with Down syndrome are more likely to exhibit visual perception deficits indicative of cerebral visual impairment. This exploratory study aims to determine the prevalence of behavioural features suggestive of cerebral visual impairment (CVI) occurring with Down syndrome and whether the visual problems can be ascribed to optometric factors. A cohort of 226 families of children with Down syndrome (trisomy 21), aged 4-17, were invited to participate in a validated question inventory, to recognise visual perception issues. The clinical records of the participants were then reviewed retrospectively. A five-question screening instrument was used to indicate suspected CVI. The majority of the 81 families who responded to the questionnaire reported some level of visual perceptual difficulty in their child. Among this cohort, the prevalence of suspected CVI as indicated by the screening questionnaire was 38%. Only ametropia was found to have a significant association with suspected CVI, although this increased the correct prediction of suspected CVI outcome by only a small amount. Results suggest that children with Down syndrome are more likely to experience problems consistent with cerebral visual impairment, and that these may originate from a similar brain dysfunction to that which contributes to high levels of ametropia and failure to emmetropise. It is important that behavioural features of CVI are recognised in children with Down syndrome, further investigations initiated and appropriate management applied.

In-vivo anterior segment OCT imaging provides unique insight into cerulean blue-dot opacities and cataracts in Down syndrome.

Down syndrome (DS) is frequently associated with cataract, but there remains scant information about DS cataract morphology. Supra-nuclear cataracts in DS have been proposed as indicative of beta-amyloid (Aß) aggregation and thus potential biomarkers for Alzheimer's (AD). This study employed anterior segment OCT (AS-OCT) and slit-lamp (SL) photography to image the crystalline lens in DS, compared with adult controls. Lens images were obtained post-dilation. Using MATLAB, AS-OCT images were analysed and lens opacities calculated as pixel intensity and area ratios. SL images were classified using LOCS III. Subjects were n = 28 DS (mean ± SD 24.1 ± 14.3years), and n = 36 controls (54.0 ± 3.4years). For the DS group, AS-OCT imaging revealed the frequent presence of small dot opacities (27 eyes, 50%) in the cortex and nucleus of the lens, covering an area ranging from 0.2-14%. There was no relation with age or visual acuity and these dot opacities (p > 0.5) and they were not present in any control lenses. However, their location and morphology does not coincide with previous reports linking these opacities with Aß accumulation and AD. Four participants (14%) in the DS group had clinically significant age-related cataracts, but there was no evidence of early onset of age-related cataracts in DS.

Quantitative Characterization of Smooth Pursuit Eye Movements in School-Age Children Using a Child-Friendly Setup.

PURPOSE: It could be argued that current studies investigating smooth pursuit development in children do not provide an optimal measure of smooth pursuit characteristics, given that a significant number have failed to adjust their setup and procedures to the child population. This study aimed to characterize smooth pursuit in children using child-friendly stimuli and procedures. METHODS: Eye movements were recorded in 169 children (4-11 years) and 10 adults, while a customized, animated stimulus was presented moving horizontally and vertically at 6°/s and 12°/s. Eye movement recordings from 43 children with delayed reading, two with nystagmus, two with strabismus, and two with unsuccessful calibration were excluded from the analysis. Velocity gain, proportion of smooth pursuit, and the number and amplitude of saccades during smooth pursuit were calculated for the remaining participants. Median and quartiles were calculated for each age group and pursuit condition. ANOVA was used to investigate the effect of age on smooth pursuit parameters. RESULTS: Differences across ages were found in velocity gain (6°/s P < 0.01; 12°/s P < 0.05), as well as the number (12°/s P < 0.05) and amplitude of saccades (12°/s P < 0.05), for horizontal smooth pursuit. Post hoc tests showed that these parameters were different between children aged 7 or younger and adults. No significant differences were found across ages in any smooth pursuit parameter for the vertical direction (P > 0.05). CONCLUSIONS: Using child-friendly methods, children over the age of 7 to 8 years demonstrated adultlike smooth pursuit. TRANSLATIONAL RELEVANCE: Child-friendly procedures are critical for appropriately characterizing smooth pursuit eye movements in children.

Findings from an opt-in eye examination service in English special schools. Is vision screening effective for this population?

Our objective was to present the findings of an opt-in, school-based eye care service for children attending 11 special schools in England and use these findings to determine whether a vision screening programme would be appropriate for this population. Data from eye examinations provided to 949 pupils (mean age 10.7 years) was analysed to determine the prevalence and aetiology of visual deficiencies and reported eye care history. For 46.2% (n = 438) of pupils, a visual deficiency was recorded. 12.5% of all the children seen (n = 119) had a visual deficiency that was previously undiagnosed. Referral for a medical opinion was made for 3.1% (n = 29) of pupils seen by the service. Spectacle correction was needed for 31.5% (n = 299) of pupils; for 12.9% (122) these were prescribed for the first time. 3.7% (n = 11) of parents/carers of pupils needing spectacles chose not to use the spectacle dispensing service offered in school. Eye care history was available for 847 pupils (89.3%). Of the pupils for whom an eye care history was available, 44% (n = 373) reported no history of any previous eye care and10.7% (n = 91) reported a history of attending a community optical practice/opticians. Only one pupil from the school entry 4-5 age group (0.6% of age group n = 156) would have passed vision screening using current Public Health England screening guidelines. Children with a diagnosis of autism were significantly less likely to be able to provide a reliable measurement of visual acuity. This study supports previously published evidence of a very high prevalence of visual problems in children with the most complex needs and a significant unmet need in this group. It demonstrates routine school entry vision screening using current Public Health England guidelines is not appropriate for this group of children and very low uptake of community primary eye care services.

An automated segmentation approach to calibrating infantile nystagmus waveforms.

Infantile nystagmus (IN) describes a regular, repetitive movement of the eyes. A characteristic feature of each cycle of the IN eye movement waveform is a period in which the eyes are moving at minimal velocity. This so-called "foveation" period has long been considered the basis for the best vision in individuals with IN. In recent years, the technology for measuring eye movements has improved considerably, but there remains the challenge of calibrating the direction of gaze in tracking systems when the eyes are continuously moving. Identifying portions of the nystagmus waveform suitable for calibration typically involves time-consuming manual selection of the foveation periods from the eye trace. Without an accurate calibration, the exact parameters of the waveform cannot be determined. In this study, we present an automated method for segmenting IN waveforms with the purpose of determining the foveation positions to be used for calibration of an eye tracker. On average, the "point of regard" was found to be within 0.21° of that determined by hand-marking by an expert observer. This method enables rapid clinical quantification of waveforms and the possibility of gaze-contingent research paradigms being performed with this patient group.

Spatial summation across the visual field in strabismic and anisometropic amblyopia.

Ricco's area (the largest area of visual space in which stimulus area and intensity are inversely proportional at threshold) has previously been hypothesised to be a result of centre/surround antagonism in retinal ganglion cell receptive fields, but recent evidence suggests a sizeable cortical contribution. Here, Ricco's area was measured in amblyopia, a condition in which retinal receptive fields are normal, to better understand its physiological basis. Spatial summation functions were determined at 12 visual field locations in both eyes of 14 amblyopic adults and 15 normal-sighted controls. Ricco's area was significantly larger in amblyopic eyes than in fellow non-amblyopic eyes. Compared to the size of Ricco's area in control eyes, Ricco's area measured significantly larger in amblyopic eyes. Additionally, Ricco's area in the fellow, non-amblyopic eye of amblyopic participants measured significantly smaller than in control eyes. Compared to controls, Ricco's area was larger in amblyopic eyes and smaller in fellow non-amblyopic eyes. Amblyopia type, binocularity, and inter-ocular difference in visual acuity were significantly associated with inter-ocular differences in Ricco's area in amblyopes. The physiological basis for Ricco's area is unlikely to be confined to the retina, but more likely representative of spatial summation at multiple sites along the visual pathway.

Different visual development: norms for visual acuity in children with Down's syndrome.

BACKGROUND: Visual acuity is known to be poorer in children with Down's syndrome than in age-matched controls. However, to date, clinicians do not have access to norms for children with Down's syndrome that allow differential discrimination of healthy from anomalous visual development in this population. METHODS: The Down's Syndrome Vision Research Unit at Cardiff University has been monitoring visual development in a large cohort of children since 1992. Cross-sectional data on binocular visual acuity were retrospectively analysed for 159 children up to 12 years of age in order to establish binocular acuity norms. Longitudinal binocular acuity data were available for nine children who were seen regularly over the 12 years age-range. Monocular acuity was successfully recorded less often in the cohort, but analysis of scores for 69 children allowed assessment of inter-ocular acuity differences and binocular summation. RESULTS: In comparison with published norms for the various acuity tests used, binocular acuity was consistently poorer in children with Down's syndrome from the age of three years and stabilised at around 0.25 logMAR from the age of four years. Inter-ocular acuity difference and binocular summation were both 0.06 logMAR, which is similar to the reported values in children without Down's syndrome. CONCLUSIONS: The study provides eye-care practitioners with the expected values for binocular acuity in children with Down's syndrome and demonstrates the visual disadvantage that children with Down's syndrome have when compared with their typically developing peers. The results emphasise the responsibility that practitioners have to notify parents and educators of the relatively poor vision of children with Down's syndrome, and the need for classroom modifications.

Saccades and fixations in children with delayed reading skills.

PURPOSE: Previous studies have reported that eye movements differ between good/average and poor readers. However, these studies have been limited to investigating eye movements during reading related tasks, and thus, the differences found could arise from deficits in higher cognitive processes involved in reading rather than oculomotor performance. The purpose of the study is to determine the extent to which eye movements in children with delayed reading skills are different to those obtained from children with good/average reading skills in non-reading related tasks. METHODS: After a screening optometric assessment, eye movement recordings were obtained from 120 children without delayed reading skills and 43 children with delayed reading skills (4 to 11 years) using a Tobii TX300 eye tracker. Cartoon characters were presented horizontally from -20° to +20° in steps of 5° to study saccades. An animated stimulus in the centre of the screen was presented for 8 seconds to study fixation stability. Saccadic main sequences, and the number and amplitude of the saccades during fixation were obtained for each participant. Children with delayed reading skills (n = 43) were unmasked after data collection was completed. Medians and quartiles were calculated for each eye movement parameter for children without (n = 120) and with (n = 43) delayed reading skills. RESULTS: Independent t-tests with Bonferroni correction showed no significant differences in any of the saccadic main sequence parameters (Slope, Intercept, A, n and Q ratio) between children without and with delayed reading (p > 0.01). Similarly, no significant differences were found in the number of saccades and their amplitude during the fixation task between the two groups (p > 0.05). Further, none of the gross optometric parameters assessed (visual acuity, refractive error, ocular alignment, convergence, stereopsis and accommodation accuracy) were found to be associated with delayed reading skills (p > 0.05). CONCLUSIONS: Eye movements in children with delayed reading skills are quantitatively similar to those found in children without delayed reading skills. These findings suggest that, in these children, delayed reading skills are not associated with eye movements and further question interventions targeted at improving eye movement control.

Effect of Stimulus Type and Motion on Smooth Pursuit in Adults and Children.

PURPOSE: This study presents a two-degree customized animated stimulus developed to evaluate smooth pursuit in children and investigates the effect of its predetermined characteristics (stimulus type and size) in an adult population. Then, the animated stimulus is used to evaluate the impact of different pursuit motion paradigms in children. METHODS: To study the effect of animating a stimulus, eye movement recordings were obtained from 20 young adults while the customized animated stimulus and a standard dot stimulus were presented moving horizontally at a constant velocity. To study the effect of using a larger stimulus size, eye movement recordings were obtained from 10 young adults while presenting a standard dot stimulus of different size (1° and 2°) moving horizontally at a constant velocity. Finally, eye movement recordings were obtained from 12 children while the 2° customized animated stimulus was presented after three different smooth pursuit motion paradigms. Performance parameters, including gains and number of saccades, were calculated for each stimulus condition. RESULTS: The animated stimulus produced in young adults significantly higher velocity gain (mean: 0.93; 95% CI: 0.90-0.96; P = .014), position gain (0.93; 0.85-1; P = .025), proportion of smooth pursuit (0.94; 0.91-0.96, P = .002), and fewer saccades (5.30; 3.64-6.96, P = .008) than a standard dot (velocity gain: 0.87; 0.82-0.92; position gain: 0.82; 0.72-0.92; proportion smooth pursuit: 0.87; 0.83-0.90; number of saccades: 7.75; 5.30-10.46). In contrast, changing the size of a standard dot stimulus from 1° to 2° did not have an effect on smooth pursuit in young adults (P > .05). Finally, smooth pursuit performance did not significantly differ in children for the different motion paradigms when using the animated stimulus (P > .05). CONCLUSIONS: Attention-grabbing and more dynamic stimuli, such as the developed animated stimulus, might potentially be useful for eye movement research. Finally, with such stimuli, children perform equally well irrespective of the motion paradigm used.

The Effect of Gaze Angle on Visual Acuity in Infantile Nystagmus.

Purpose: Most individuals with infantile nystagmus (IN) have an idiosyncratic gaze angle at which their nystagmus intensity is minimized. Some adopt an abnormal head posture to use this "null zone," and it has therefore long been assumed that this provides people with nystagmus with improved visual acuity (VA). However, recent studies suggest that improving the nystagmus waveform could have little, if any, influence on VA; that is, VA is fundamentally limited in IN. Here, we examined the impact of the null zone on VA. Methods: Visual acuity was measured in eight adults with IN using a psychophysical staircase procedure with reversals at three horizontal gaze angles, including the null zone. Results: As expected, changes in gaze angle affected nystagmus amplitude, frequency, foveation duration, and variability of intercycle foveation position. Across participants, each parameter (except frequency) was significantly correlated with VA. Within any given individual, there was a small but significant improvement in VA (0.08 logMAR) at the null zone as compared with the other gaze angles tested. Despite this, no change in any of the nystagmus waveform parameters was significantly associated with changes in VA within individuals. Conclusions: A strong relationship between VA and nystagmus characteristics exists between individuals with IN. Although significant, the improvement in VA observed within individuals at the null zone is much smaller than might be expected from the occasionally large variations in intensity and foveation dynamics (and anecdotal patient reports of improved vision), suggesting that improvement of other aspects of visual performance may also encourage use of the null zone.

Infantile nystagmus: an optometrist's perspective.

Infantile nystagmus (IN), previously known as congenital nystagmus, is an involuntary to-and-fro movement of the eyes that persists throughout life. IN is one of three types of early-onset nystagmus that begin in infancy, alongside fusion maldevelopment nystagmus syndrome and spasmus nutans syndrome. Optometrists may also encounter patients with acquired nystagmus. The features of IN overlap largely with those of fusion maldevelopment nystagmus syndrome, spasmus nutans syndrome, and acquired nystagmus, yet the management for each subtype is different. Therefore, the optometrist's role is to accurately discern IN from other forms of nystagmus and to manage accordingly. As IN is a lifelong condition, its presence not only affects the visual function of the individual but also their quality of life, both socially and psychologically. In this report, we focus on the approaches that involve optometrists in the investigation and management of patients with IN. Management includes the prescription of optical treatments, low-vision rehabilitation, and other interventions such as encouraging the use of the null zone and referral to support groups. Other treatments available via ophthalmologists are also briefly discussed in the article.

Visual Defects in Special Olympics Participants From Europe.

OBJECTIVE: To describe visual problems among athletes with intellectual disabilities (IDs) and the role of vision in special sports. DESIGN: A cross-sectional observational study. SETTING: Athletes participating in Special Olympics European Summer Games 2010 in Warsaw attended vision screening by Special Olympics Lions Clubs International Opening Eyes. PARTICIPANTS: Coaches were encouraged to bring all athletes to screening without selection; 900 athletes from 52 European countries participated. INTERVENTIONS: Standard noninvasive eye examination procedures. Independent variables were age, gender, sport, and country of origin. MAIN OUTCOME MEASURES: Eyeglasses wear, presenting visual acuity, refractive error, and ocular health. RESULTS: Testability rates were very high. Findings confirmed high prevalence of ocular/visual defects in people with ID. There was an association between acuity and sport discipline. Few athletes used sports glasses. Screening revealed a lack of eye care even in the most developed nations. CONCLUSIONS: The impact of vision on sports activity in athletes with ID is significant. More needs to be done to ensure good vision and safety correction for active people with ID. Better provision and greater awareness of eye care in people with ID is needed in all European societies. CLINICAL RELEVANCE: Data presented highlight the need for increased awareness of the role of vision in sporting achievements, personal development, and quality of life in active people with ID. Athletes with ID should have easily accessible comprehensive eye care, and when appropriate, corrective and protective glasses. This will require the efficient cooperation of vision specialists, coaches, carers, and athletes themselves.

Visual Processing in Infantile Nystagmus Is Not Slow.

PURPOSE: Treatments for infantile nystagmus (IN) sometimes elicit subjective reports of improved visual function, yet quantifiable improvements in visual acuity, if any, are often negligible. One possibility is that these subjective "improvements" may relate to temporal, rather than spatial, visual function. This study aimed to ascertain the extent to which "time to see" might be increased in nystagmats, as compared to normally sighted controls. By assessing both eye movement and response time data, it was possible to determine whether delays in "time to see" were due solely to the eye movements, or to an underlying deficit in visual processing. METHODS: The time taken to respond to the orientation of centrally and peripherally presented gratings was measured in subjects with IN and normally sighted controls (both groups: n = 11). For each vertically displaced grating, the time until the target-acquiring saccade was determined, as was the time from the saccade until the subject's response. RESULTS: Nystagmats took approximately 60 ms longer than controls to execute target-acquiring saccades to vertically displaced targets (P = 0.010). However, the time from the end of the saccade until subjects responded was not significantly different between groups (P = 0.37). Despite this, nystagmats took longer to respond to gratings presented at fixation. CONCLUSIONS: Individuals with IN took longer to direct their gaze toward objects of interest. However, once a target was foveated, the time taken to process visual information and respond did not appear to differ from that of control subjects. Therefore, conscious visual processing in IN is not slow.

Grating visual acuity in infantile nystagmus in the absence of image motion.

PURPOSE: Infantile nystagmus (IN) consists of largely horizontal oscillations of the eyes that usually begin shortly after birth. The condition is almost always associated with lower-than-normal visual acuity (VA). This is assumed to be at least partially due to motion blur induced by the eye movements. Here, we investigated the effect of image motion on VA. METHODS: Grating stimuli were presented, illuminated by either multiple tachistoscopic flashes (0.76 ms) to circumvent retinal image motion, or under constant illumination, to subjects with horizontal idiopathic IN and controls. A staircase procedure was used to estimate VA (by judging direction of tilt) under each condition. Orientation-specific effects were investigated by testing gratings oriented about both the horizontal and vertical axes. RESULTS: Nystagmats had poorer VA than controls under both constant and tachistoscopic illumination. Neither group showed a significant difference in VA between illumination conditions. Nystagmats performed worse for vertically oriented gratings, even under tachistoscopic conditions (P < 0.01), but there was no significant effect of orientation in controls. CONCLUSIONS: The fact that VA was not significantly affected by either illumination condition strongly suggests that the eye movements themselves do not significantly degrade VA in adults with IN. Treatments and therapies that seek to modify and/or reduce eye movements may therefore be fundamentally limited in any improvement that can be achieved with respect to VA.

Ocular and visual status among children in special schools in Wales: the burden of unrecognised visual impairment.

BACKGROUND/AIMS: The high prevalence of visual defects among children with special needs is well reported and guidelines for vision screening are in place. However, recent research has suggested that vision care for such children is neglected. This study set out to evaluate the current status of vision screening and eye care in special schools in Wales. METHODS: In phase 1, all 44 special schools in Wales received a questionnaire on current vision screening practices. In phase 2, full eye examinations were conducted with 173 pupils of five schools with no screening service; the pupils were aged 2-21 years. In phase 3, feedback about the service was obtained from all schools and from 15 parents whose children took part. RESULTS: In phase 1, vision screening was patchy and inconsistent among the 39 schools responding. In phase 2, there is a high proportion of pupils (42%) reporting no previous eye examination. Overall, 17% of the pupils in the five schools presented with low vision (WHO definition, poorer than 0.3 LogMAR), 50% needed a first-time or updated spectacle prescription and 51% had some ocular abnormality that was either sight-limiting or warranted action to prevent risk to sight. In phase 3, school staff and parents reported that school-based eye examinations were valuable and, for those children with previous experience, likely to be more successful than clinic-based or practice-based examinations for this particular population. CONCLUSIONS: There is an urgent need for a school-based optometric service for this vulnerable group of children and young people.