Psychometric properties of the 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25), Japanese version

BACKGROUND: The importance of evaluating the outcomes of health care from the standpoint of the patient is now widely recognized. The purpose of this study is to develop and test a Japanese version of the National Eye Institute Visual Function Questionnaire (NEI VFQ-25). METHODS: A Japanese version was developed with a previously standardized method. The questionnaire and optional items were completed by 245 patients with cataracts, glaucoma, or age-related macular degeneration, by 110 others before and after cataract surgery, and by a reference group (n = 31). We computed rates of missing data, measured reproducibility and internal consistency reliability, and tested for convergent and discriminant validity, concurrent validity, known-groups validity, factor structure, and responsiveness to change. RESULTS: Based on information from the participants, some items were changed to 2-step items (asking if an activity was done, and if it was done, then asking how difficult it was). The near-vision and distance-vision subscales each had 1 item that was endorsed by very few participants, so these items were replaced with items that were optional in the English version. For example, more than 60% of participants did not drive, so the driving question was excluded. Reliability and validity were adequate for all subscales except driving, ocular pain, color vision, and peripheral vision. With cataract surgery, most scores improved by at least 20 points. CONCLUSION: With minor modifications from the English version, the Japanese NEI VFQ-25 can give reliable, valid, responsive data on vision-related quality of life, for group-level comparisons or for tracking therapeutic outcomes

GWAS for Japanese CSC

PURPOSE. Central serous chorioretinopathy (CSC) is a retinal disorder that often affects the vision of middle-aged people yet the molecular mechanisms of CSC remain unknown. This study was conducted to identify genetic factors influencing individual differences in susceptibility to CSC. METHODS. A two-stage genome-wide association study (GWAS) was conducted with a total of 320 unrelated Japanese idiopathic CSC cases and 3245 population-based controls. In a discovery stage, 137 unrelated Japanese idiopathic CSC cases and 1174 population-based controls were subjected to GWAS, followed by a replication study using an additional 183 individuals with idiopathic CSC and 2071 population-based volunteers. The results of the discovery and replication stages were combined to conduct a meta-analysis. RESULTS. In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10−9, odds ratio = 2.10). CONCLUSIONS. The results of the present study demonstrated that SLC7A5 might be the potential candidate gene associated with CSC, indicating a previously unidentified molecular mechanism of CSC

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A(1) activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype.ArticleSCIENTIFIC REPORTS. 4:7132 (2014)journal articl

Correlation of Aging and Segmental Choroidal Thickness Measurement using Swept Source Optical Coherence Tomography in Healthy Eyes.

To assess and compare choroidal thickness changes related to aging, we determined whether changes are due to thinning of the choriocapillaris plus Sattler's (CS) layer and/or the large vessel layer in healthy eyes using swept-source optical coherence tomography (SS-OCT) at a wavelength of 1,050-nm.We studied 115 normal eyes of 115 healthy volunteers, all with refractive errors of less than -6 diopters. All 115 eyes underwent analysis of choroidal thickness at the fovea, the CS layer and the large choroidal vessel layer. In 68 of the 115 eyes, choroidal thickness was determined at five sites (the fovea, and superior, inferior, nasal, and temporal sites) using SS-OCT with an Early Treatment of Diabetic Retinopathy grid scan.Total choroidal thicknesses at each of the five sites were related to subject age (P<0.0001). The choroid was thinnest at the nasal site, followed by the temporal, inferior, superior and finally the subfoveal site itself. The total choroidal thickness at the nasal site was significantly less than those at the other four sites (p<0.05). The CS layer showed thinning which correlated with age (P<0.0001). The thickness of the choroidal large vessel layer also decreased with age (p = 0.02). Subfoveal choroidal thickness was calculated as follows: 443.89-2.98×age (μm) (P<0.0001).Subfoveal choroidal thickness decreases by 2.98 μm each year. Total choroidal thickness diminishes with age. The CS and large vessel layers of the choroid at the subfovea showed significant decreases, though only the former correlated strongly with age

Multifocal electroretinograms in cases of central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci

PURPOSE. To study multifocal electroretinograms (mfERG) in patients with early-stage central alveolar choroidal dystrophy (CACD) with well-demarcated atrophic areas. METHODS. Eight eyes of eight patients with CACD (ages, 47-67 years) and 20 normal control subjects were examined. The first-and second-order kernels (K1 and K2) were extracted from the responses elicited by 61 standard hexagonal elements of a visual response imaging system. The amplitudes and peak times of the focal responses at various retinal eccentricities were studied. RESULTS. The amplitudes of K1 were reduced in the visibly atrophic areas, and they were also decreased in areas with no visible atrophy. The peak time was slightly delayed in many loci, but the delay was not as long as that in congenital stationary night blindness or diabetic retinopathy. The amplitude of K2 was very small in the central and peripheral areas, but the K2/K1 ratio in both areas was not significantly reduced, compared with that in normal subjects. CONCLUSIONS. Although the atrophic area was ophthalmoscopically well demarcated in patients with CACD, the abnormality of retinal function extended beyond the borders of the ophthalmoscopic and angiographic lesions. The retinal dysfunction outside the atrophic areas suggests a centrifugal progression of the disease, and abnormal K2 and K1 with preserved K2/K1 ratio are consistent with a presynaptic mechanism for the retinal dysfunction in this disease. (Invest Ophthalmol Vis Sci. 2003;44:1673-1679) DOI:10.1167/iovs.02-0885 C entral areolar choroidal dystrophy (CACD), originally reported by Nettleship in 1884, 1 is a rare macular dystrophy that is characterized by the development of fine, mottled, depigmented retinal pigment epithelium (RPE) in the macula. The round or oval macular lesion shows a distinct boundary and sometimes includes small areas with normal appearance inside the lesion. Although dominant and recessive inheritances have been reported, most cases are sporadic. 2 The associated findings include a central and/or paracentral scotoma and normal peripheral visual fields. Fluorescein and indocyanine angiograms reveal RPE atrophy and various degrees of loss of the choriocapillaris. Full-field electroretinograms (ERGs) are normal in the early stages, but may become abnormal in the advanced stages. 3,4 The technique for recording multifocal ERGs (mfERGs), based on an m-sequence stimulation, allows a rapid recording of focal ERGs from many retinal locations in the posterior pole of the eye. 9 -11 It has been reported that the amplitude and the peak time of the first-order kernel (K1) of the mfERGs can be used to monitor retinal function in different kinds of retinal dystrophies. 16 We extracted the first-and second-order kernels (K1 and K2) of the mfERG from eight eyes of eight patients with CACD (not in the advanced stage) to determine the correspondence between the areas of retinal dysfunction and the lesions that were visible ophthalmoscopically. Because the visible lesion in CACD has a distinct border, image processing allowed us to make an accurate comparison between the responses inside and outside the lesion. SUBJECTS AND METHODS Subjects Eight eyes of eight patients with CACD, ages 41 to 71 years (mean, 56.2), were recruited from the Department of Ophthalmology, School of Medicine, Nippon University. The diagnosis of CACD was made by the characteristic findings in color fundus photographs, fluorescein and indocyanine green angiograms, and other clinical findings (the onset of symptoms, slow progression, no history of chloroquine, normal dark adaptation, normal color vision, and normal peripheral field). Patients with secondary atrophy, such as age-related macular degeneration, were excluded. Stargardt disease was excluded by its earlier onset and typical angiographic findings (silent choroid). The inclusion criteria were good visual acuity (better than 0.7), normal electroFrom th