The RU_SATED as a measure of sleep health: cross-cultural adaptation and validation in Chinese healthcare students.

BACKGROUND: The RU_SATED scale is a multidimensional instrument measuring sleep health, consisting of Regularity, Satisfaction, Alertness, Timing, Efficiency, Duration dimensions. We adapted and validated the Chinese RU_SATED (RU_SATED-C) scale. METHODS: The RU_SATED-C scale was developed through a formal linguistic validation process and was validated in an observational longitudinal survey design. Healthcare students completed the RU_SATED scale, Sleep Quality Questionnaire, and Patient Health Questionnaire-4 among two sites of Hangzhou and Ningbo, China. Psychometric assessments included structural validity, longitudinal measurement invariance, convergent and divergent validity, internal consistency, and test-retest reliability. RESULTS: A total of 911 healthcare students completed the RU_SATED-C scale at baseline (Time 1, T1) and follow-up (Time 2, T2) with an average time interval of 7 days + 5.37 h. Confirmatory factor analysis (CFA) confirmed a single-factor model and resulted in an acceptable model fit. The two-factor model previously found in the Japanese version fit better than the one-factor model, whereas the one-factor model fit had a better fit than the two-factor model found in the English version. Longitudinal CFA resulted in negligible changes in fit indices for four forms of increasingly restrictive models and supported that a single-factor model was equivalent over time. The data also endorsed longitudinal measurement invariance among the two-factor models found in the English and Japanese samples. The RU_SATED-C scale total score displayed a moderately strong negative correlation with sleep quality; however, negligible associations were observed with anxiety and depression. Ordinal Cronbach's alpha and Ordinal McDonald's omega at T1 and T2 ranged from suboptimal to acceptable. The RU_SATED-C scale and all items were significantly correlated across time intervals. CONCLUSION: The RU_SATED-C scale is an easy-to-use instrument with potentially valid data for the measurement of multidimensional sleep health. Use of the RU_SATED-C scale can help raise awareness of sleep health and could pave the way for important efforts to promote healthy sleep.

The Development of Electroretinographic Oscillatory Potentials in Healthy Young Children.

PURPOSE: This study aimed to summarize the electroretinographic oscillatory potential (OP) responses in healthy young children recorded by RETeval. METHODS: By using the RETeval system, we recorded the implicit times and amplitudes of the OPs (OP1-5), in 132 healthy children aged from 0 to 11 years old. The age, gender, and data of implicit time and amplitude of each child were recorded and analyzed. Correlation analysis was performed between age and implicit time/amplitude. RESULTS: No correlation was shown between the implicit times and amplitudes with gender. The implicit times and amplitudes of OP1-5 matured over 10 years of age, with exponential time constants of 1.9, 2.2, 1.8, 1.7, and 1.6 years and 2.1, 2.9, 2.8, 3.0, and 3.2 years, respectively. The majority of the trend occurred within the first 4.6 years. CONCLUSIONS: In order to diagnose and evaluate vision-related disorders, the OP response is commonly used. The percentiles and age dependence of OP responses calculated and shown in this study could be regarded as reference data in age-matched pediatric patients.

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.

Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. Variants in GUCY2D constitute the most common cause of LCA and autosomal dominant CORD (ADCORD). The purpose of this study was to reveal novel variants and document associated phenotypes of patients with GUCY2D-associated retinopathy. Fifty-two potentially pathogenic variants (PPVs), including 12 novel ones (p.Gly144_Ala164del, p.Trp154Glyfs*12, p.Leu186Pro, p.Ala207Pro, p.Ala229Asp, p.Ala353Glu, p.Trp372*, p.Arg528*, p.Arg660Pro, p.Ile682Thr, p.Trp788Cys, and c.1026 + 171_*486del), were identified in 16 families with ADCORD and 34 families with autosomal recessive LCA (ARLCA). The novel variant c.1026 + 171_*486del is a large-scale (16.3 kb) deletion involving exons 4-20 of GUCY2D, and was identified in an ARLCA family in heterozygous status mimicking a homozygous p.Trp788Cys variant. Among the detected 52 PPVs, 32 (61.5%) were missense, seven (13.5%) were splicing, six (11.5%) were nonsense, four (7.7%) were inframe indel, and three (5.8%) were frameshift deletion. The median age of examination in 27 patients with ADCORD was 21.0 years (ranges 3-54) with a median visual acuity (VA) of 0.10 (ranges 0.02-0.90). There were 48.0% of patients with macular atrophy, 86.4% with severe reduced or extinguished cone responses, 77.3% with normal or mildly reduced rod responses, and 60.9% with high myopia. Visual impairment, macular dystrophy, and cone dysfunction deteriorated with age. The median age of examination in 34 patients with ARLCA was 1.1 years (ranges 0.3-25). There were 55.9% of patients with roving nystagmus, 68.2% with VA of worse than hand motion, 59.4% with almost normal fundus, 90.6% with extinguished rod and cone responses, and 50.0% with high hyperopia. In conclusions, twelve novel PPVs in GUCY2D (including a novel large-scale deletion) were identified. Most (32/52, 61.5%) of causative GUCY2D variants were missense. Progressive development of macular atrophy, cone dysfunction, visual impairment, and myopia are four major characteristics of GUCY2D-associated ADCORD. Normal fundus, roving nystagmus, and hypermetropia in early age are common findings specific to GUCY2D-associated ARLCA. The obtained data in this study will be of value in counselling patients and designing future therapeutic approaches.

Ultra-wide-field scanning laser ophthalmoscopy and optical coherence tomography in FEVR: findings and its diagnostic ability.

BACKGROUND/AIMS: To describe some novel vitreoretinal microstructural findings in patients with mild familial exudative vitreoretinopathy (FEVR) on ultra-wide-field scanning laser ophthalmoscopy (UWF-SLO) and UWF optical coherence tomography (UWF-OCT) and to evaluate their clinical significance. METHODS: A total of 32 patients and 32 healthy controls were studied. An additional independent 40 FEVR patients, 44 patients with non-FEVR retinopathies and 40 healthy controls participated in a diagnostic test to validate the abilities of novel findings in FEVR screening. RESULTS: A novel anatomic change, named Temporal Mid-Peripheral Vitreoretinal Interface Abnormality (TEMPVIA), was found on UWF-SLO in 88.3% of FEVR patients and in none of the healthy controls. The clinical significance of TEMPVIA was further validated by a diagnostic test in new independent cases, with satisfying sensitivity (91.5%) and specificity (98.8%) and Youden Index 0.90. In addition to foveal hypoplasia, some previously unrecognised, novel clinical changes in FEVR, for instance, retinoschisis, focal retinal thickening, sudden thinning of the retina and retinal ridge, were identified using UWF-OCT. CONCLUSION: The results of this study have led to an update of the clinical spectrum of FEVR and have improved our understanding of its pathogenesis. TEMPVIA is therefore suggested to be a useful biomarker in the screening strategy for mild FEVR.

Clinical features of ocular toxocariasis: a comparison between ultra-wide-field and conventional camera imaging.

PURPOSE: The purpose of this study is to compare the lesion detection rates of ocular toxocariasis (OT) between ultra-wide-field scanning laser ophthalmoscopy (UWF-SLO) and conventional fundus photography (CFP), and to evaluate the potential diagnostic ability of UWF-SLO in OT. METHODS: A total of 56 patients with serological/immunological confirmed unilateral OT were enrolled. The presence of OT characteristic features included the posterior granuloma (postG), peripheral granuloma (periG), tractional retinal detachment (TRD), retinal folds (RF), and vitreous strands (VS) and was analyzed in 36 patients with UWF-SLO and 56 patients with CFP. Diagnostic tests were employed using the clinical examination as gold standard. RESULTS: In total of the 56 OT eyes, granulomas were identified in 91.1% (51/56) of eyes, including postG in 46.4% (26/56) of eyes, periG in 41.1% (23/56) of eyes, and combined granulomas in 3.6% (2/56) of eyes. TRD, RF, and VS were found in 28.6% (16/56), 51.8% (29/56), and 83.9% (47/56) of patients, respectively. Although the specificities of the diagnosis in clinical features were similar by the diagnostic tests, the sensitivities of postG, periG, TRD, RF, and VS using UWF-SLO were 100%, 100%, 66.7%, 95%, and 81.8%, respectively, which were significantly higher those of CFP (72.2%, 31.3%, 11.1%, 55%, and 48.5%). Additionally, the extent of vitreous haze was milder graded by UWF-SLO compared to CFP (p = 0.0099). CONCLUSIONS: The diagnostic ability of UWF-SLO was superior to CFP using clinical examination as gold standard for the ascertainment of the characteristic manifestations of OT, especially for granulomas and RF.

Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.

Familial exudative vitreoretinopathy (FEVR) is an inherited disease characterized by abnormal development of retinal vasculature. KIF11 mutations were identified to be associated with FEVR in recent years. The purpose of this study was to investigate novel variants and describe associated ocular and extraocular phenotypes in FEVR patients with KIF11 mutations. Herein, 417 probands with clinical diagnosis of FEVR were enrolled. Genetic testing and ophthalmic examinations were performed in all subjects, and the genotype-phenotype correlation was analyzed. Overall, KIF11 mutation was identified in nine probands (9/417, 2.2%) among the patients with FEVR phenotype. There were six males and three females whose median age was six months (range: four months to six years old) at first visit. Among the detected mutations, five (55.6%) were frameshift, two (22.2%) were missense, one (11.1%) nonsense, and one (11.1%) splicing. Seven of these KIF11 mutations were detected as novel. Four (4/9, 44.4%) of the mutations were de novo. Clinical examinations showed that: four probands presented with bilateral falciform retinal fold; two with bilateral tractional retinal detachment; one was observed tractional retinal detachment in one eye and retinal fold in the other eye; one had falciform retinal fold in one eye and chorioretinal atrophy in the other eye; one exhibited rhegmatogenous retinal detachment in the left eye. Six of the probands were detected to have microcephaly. In conclusion: Most (5/9,55.6%) of the causative mutations were frameshift, and nearly half (4/9, 44.4%) of the mutations were de novo. Most (8/9, 88.9%) patients with KIF11 mutations showed typical ocular manifestations of severe FEVR. Majority (6/9, 66.7%) of the probands had a KIF11 mutation and were detected to have microcephaly. Seven of these harbored KIF11 mutations detected to be novel.

Developmental Changes in Retinal Microvasculature in Children: A Quantitative Analysis Using Optical Coherence Tomography Angiography.

PURPOSE: To quantify the macular microvasculature in healthy children of various ages by using optical coherence tomography angiography (OCTA). DESIGN: Prospective cross-sectional study. METHODS: A total of 333 normal children from 4 to 16 years old were included. OCTA was performed on a 3- × 3-mm area centered on the macular region. Vascular density, perfusion density, fovea avascular zone (FAZ) area, FAZ perimeter, and FAZ acircularity index (AI) were measured and adjusted for axial length. Differences were compared among various ages. RESULTS: Among the different age groups, both macular vascular density and perfusion density increased with age (P < .0001 and P = .0028, respectively). After adjustments were made for the spherical equivalent (SE) and axial length, macular vascular density was significantly associated with age (r = 0.183; P = .001) No factors were significantly correlated with the perfusion density after adjustment for the age, SE, or axial length. The FAZ area and FAZ perimeter did not change among groups of different ages. Nevertheless, the AI of FAZ in the 4.00-6.99-year-old group was smaller to that of the 13.00-15.99-year-old group (P = .03). Younger children had significantly higher rates of nonconsecutive vessels branched toward the macular center (P = .0002) and vascular loops contributing to irregular shapes of FAZ (P = .024). CONCLUSIONS: Macular vascular density and perfusion density continuously increase with age in children. Despite the fact that FAZ area and perimeter did not change, the microstructure of FAZ pruned and tended to form a smooth and regular avascular area during development.

The spectrum of genetic mutations in patients with asymptomatic mild familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a disease exhibits a wide range of clinical signs, ranging mild peripheral retinal vascular anomalies to severe retinal detachments. Individuals with mild FEVR are frequently asymptomatic with good visual function and are often undiagnosed. However, little is known about the genetic characters of the cohort. The purpose of this study was to investigate the clinical characteristics and genetic spectrum of in patients with asymptomatic mild FEVR. Herein, sixty-two patients (124 eyes) with asymptomatic mild FEVR were studied in a case series. Comprehensive ophthalmic examinations and genetic testing were performed in all patients. Clinical examinations showed that the avascular zone was seen in all 124 eyes and was the most common abnormality observed. Increased vessel branching and straightened peripheral vessel branches were found in 122 (98.4%) eyes. Late-phase angiographic posterior and peripheral leakage (LAPPEL) was observed in 80 (64.5%) eyes and V-shape degeneration was noted in 36 (29.0%) eyes. Other manifestations including extensive anastomoses, retinal ridges, and extraretinal neovascularization, which were detected in 30 (24.2%), 10 (8.1%) and 2 (1.6%) eyes respectively. Overall, pathogenic mutations were identified in 48.4% (30/62) of individuals with asymptomatic mild FEVR. Mutations in FZD4, LRP5, TSPAN12, and KIF11 were detected in 21.0% (13/62), 12.9% (8/62), 12.9% (8/62), and 1.6% (1/62) of our patients respectively. Ten novel mutations were found. In conclusion: Pathogenic mutations in the known FEVR-associated genes were detected in nearly half (48.4%) of the asymptomatic mild FEVR cohort. Among these mutations, FZD4 was predominant, appearing in 21.0% of all individuals. Patients with asymptomatic mild FEVR should receive timely examinations, lifelong monitoring, and some of them need preventive therapy and treatment. Additionally, we discovered 10 novel variants, which may enable a deeper understanding of this disease.