Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.

The findings suggest that nystagmus is more common in the general population than previously thought. This may be of significance in resource allocation and health care planning.

Background SaltSwitch is an innovative smartphone application (app) that enables shoppers to scan the barcode of a packaged food and receive an immediate, interpretive, traffic light nutrition label on the screen, along with suggestions for lower salt alternatives. Our aim was to determine the effectiveness of SaltSwitch to support people with cardiovascular disease to make lower salt food choices. Design Six-week, two-arm, parallel, randomised controlled trial in Auckland, New Zealand (2 weeks baseline and 4 weeks intervention). Methods Sixty-six adults with diagnosed cardiovascular disease (mean (SD) age 64 (7) years) were randomly assigned in a 1:1 ratio to either the SaltSwitch smartphone app or control (usual care). The primary outcome was the salt content of household packaged food purchases during the 4-week intervention (g/MJ). Secondary outcomes were the saturated fat content (g/MJ), energy content (kJ/kg) and expenditure (NZ$) of household food purchases; systolic blood pressure (mmHg), urinary sodium (mg) and use and acceptability of the SaltSwitch app. Results Thirty-three participants with cardiovascular disease were allocated to the SaltSwitch intervention, and 33 to the control group. A significant reduction in mean household purchases of salt was observed (mean difference (95% confidence interval), -0.30 (-0.58 to -0.03) g/MJ), equating to a reduction of ∼0.7 g of salt per person per day during the 4-week intervention phase. There were no significant between-group differences in any secondary outcomes (all P > 0.05). Conclusions The SaltSwitch smartphone app is effective in supporting people with cardiovascular disease to make lower salt food purchases. A larger trial with longer follow-up is warranted to determine the effects on blood pressure. Trial registration Australian New Zealand Clinical Trials Registry https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=365784&isReview=true ACTRN12614000206628.

For the first time, we show progressive longitudinal changes in retinal morphology in achromatopsia. Early changes include subtle IS/OS reflectivity alterations. The dynamic retinal changes in younger patients provide evidence that it represents a progressive disorder, and implementation of gene therapy during the early stages of the disease may provide best prognosis.

Nystagmus is an involuntary rhythmic oscillation of the eyes, which leads to reduced visual acuity due to the excessive motion of images on the retina. Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. IN can be idiopathic or associated to albinism, retinal disease, low vision, or visual deprivation in early life, for example due to congenital cataracts, optic nerve hypoplasia, and retinal dystrophies, or it can be part of neurological syndromes and neurologic diseases. It is important to differentiate between infantile and acquired nystagmus. This can be achieved by considering not only the time of onset of the nystagmus, but also the waveform characteristics of the nystagmus. Neurological disease should be suspected when the nystagmus is asymmetrical or unilateral. Electrophysiology, laboratory tests, neurological, and imaging work-up may be necessary, in order to exclude any underlying ocular or systemic pathology in a child with nystagmus. Furthermore, the recent introduction of hand-held spectral domain optical coherence tomography (HH SD-OCT) provides detailed assessment of foveal structure in several pediatric eye conditions associated with nystagmus and it can been used to determine the underlying cause of infantile nystagmus. Additionally, the development of novel methods to record eye movements can help to obtain more detailed information and assist the diagnosis. Recent advances in the field of genetics have identified the FRMD7 gene as the major cause of hereditary X-linked nystagmus, which will possibly guide research towards gene therapy in the future. Treatment options for nystagmus involve pharmacological and surgical interventions. Clinically proven pharmacological treatments for nystagmus, such as gabapentin and memantine, are now beginning to emerge. In cases of obvious head posture, eye muscle surgery can be performed to shift the null zone of the nystagmus into the primary position, and also to alleviate neck problems that can arise due to an abnormal head posture.

PURPOSE.To characterize the time course of normal foveal development in vivo in term infants and young children using handheld spectral-domain optical coherence tomography (HH-SDOCT). METHODS.We obtained 534 HH-SDOCT scans from 261 infants, children, and young adults with a mean age of 4.9 years (range, 0-27 years). Each retinal layer was manually segmented in ImageJ and correlated with gestational age (GA) and visual acuity (VA). The developmental trajectories of each retinal layer at the fovea, parafovea, and perifovea were calculated using fractional polynomial modeling.RESULTS. The central macular thickness (CMT) increases logarithmically between birth and 48.6 months GA. The foveal ganglion cell (GCL), inner plexiform, inner nuclear (INL), and outer plexiform layers decrease in thickness exponentially until 18 months GA. Interestingly, the parafoveal and perifoveal GCL and INL thicknesses initially decrease until 17 months GA and then increase in thickness until 65.5 GA. The foveal outer nuclear layer, inner segment, and outer segment of the photoreceptors increase in thickness logarithmically until 32.4, 26.9, and 45.3 months GA, respectively. The parafoveal and perifoveal outer retinal layers increase in thickness more gradually until 146 months GA. The thickness of the outer retinal layers and CMT were strongly correlated with VA, with r ¼ 0.54 (P < 0.0001) and r ¼ 0.52 (P < 0.0001), respectively. CONCLUSIONS.We have modeled for the first time the complex, nonlinear developmental trajectories for each retinal layer and demonstrate that development continues until adolescence. Our description of normal development will be helpful in diagnosing, monitoring, and understanding pediatric retinal disease.

Our findings show that pharmacological agents such as memantine and gabapentin can improve visual acuity, reduce nystagmus intensity, and improve foveation in congenital nystagmus.

Understanding the development of common strabismus is important in locating "at-risk" populations and implementing optimal treatment. This systematic review will bring together reported genetic and environmental risk factors for common strabismus to reveal relationships between risk factors and guide future research. OBJECTIVE To identify known environmental and genetic risk factors for comitant strabismus reported in the literature. DATA SOURCES A systematic literature search was performed in Medline, Embase, BioSciences Information Service Previews, Web of Science, and the OMIM database during a 2-week period in July 2011 (including all available years) using the following key words: gene, genetic environmental factor, inheritance, risk factor, esotropia, exotropia, strabismus, squint, convergent strabismus, and divergent strabismus. STUDY SELECTION No language restrictions were placed on the search. Exclusion criteria consisted of associated syndromes, strabismus not the primary outcome, poor study design or quality, and logarithm of the odds score less than 3. DATA EXTRACTION AND SYNTHESIS A study quality and extraction tool was used. Analysis was performed descriptively because of the variant characteristics of the study designs. MAIN OUTCOMES AND MEASURES Risk factor, twin, pedigree, and genetic studies. RESULTS Forty-one articles fulfilled the inclusion criteria set out by the study, which highlighted 4 subcategories: risk factor, twin, pedigree, and genetic studies. Significant risk factors for strabismus reported by the studies included low birth weight, cicatricial retinopathy of prematurity, prematurity, smoking throughout pregnancy, anisometropia, hyperopia, and inheritance. Inheritance was further supported by twin and pedigree studies, which revealed the complexity of the inheritance pattern. At present the STBMS1 locus is the only gene location that has been supported; however, others have been reported. CONCLUSIONS AND RELEVANCE Certain subgroups within the population are at higher risk of developing comitant strabismus and should be identified and monitored to allow for earlier detection. It is evident that a strong hereditary link is present particularly in intermittent and accommodative forms; however, further research is required to identify possible links between subtypes of strabismus. Further genetic research could also help to locate additional causative genes to aid the understanding of strabismus development.