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1.
J Diabetes Investig ; 2019 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-31472101

RESUMO

Medical nutrition therapy (MNT) has an important role in controlling body weight and blood glucose levels in diabetes patients. Most type 2 diabetes patients in Asia show a remarkably impaired insulin secretory response to glucose and non-obesity compared to those in Western countries. Differing dietary habits of course contribute to this difference, and MNT strategies to improve glycemic control and reduce body weight also differ. Postprandial glucose levels are regulated by glucose absorption in intestine, gastric motility and insulin secretion from pancreatic ß-cells. Dietary content and meal sequence can affect postprandial glucose excursion by altering these features; glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) also contribute to glycemic control. It is especially important now to consider dietary interventions, as the beneficial effects of widely used glucose-lowering agents such as DPP-4 inhibitors and SGLT2 inhibitors are influenced by dietary habits. In this update, we discuss dietary plans that can be recommended clinically to better maintain good glycemic control and body weight in Asian- type 2 diabetes patients.

2.
J Diabetes Complications ; : 107415, 2019 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-31466840

RESUMO

AIMS: The aim of this study is to investigate the effects of a low-carbohydrate staple food (i.e., low-carbohydrate bread) on glucose and lipid metabolism and pancreatic and enteroendocrine hormone secretion in comparison with meals containing normal-carbohydrate bread, without consideration of the carbohydrate content of the side dishes. METHODS: T2DM patients (n = 41) were provided meals containing low-carbohydrate bread (LB) together with side dishes or normal-carbohydrate bread (NB) together with side dishes every other day as a breakfast. Blood glucose levels were evaluated by using a continuous glucose monitoring system; blood samples were collected before and 1 and 2 h after the breakfast. RESULTS: Postprandial blood glucose levels, plasma insulin, plasma glucose-dependent insulinotropic polypeptide (GIP) and plasma triglyceride were significantly lower and plasma glucagon levels were significantly higher in LB compared with those in NB. Plasma glucagon-like peptide-1 (GLP-1) levels did not differ in the LB and NB groups. CONCLUSIONS: These results indicate that changing only the carbohydrate content of the staple food has benefits on glucose and lipid metabolism in T2DM patients concomitant with the decrease of insulin and GIP secretion, which ameliorate body weight gain and insulin resistance.

3.
Invest Ophthalmol Vis Sci ; 60(10): 3432-3446, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31390656

RESUMO

Purpose: Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). Methods: Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed. Results: There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6-23 years) and that at the time of examination was 40.3 years (range, 22-67 years). The best-corrected visual acuity ranged from -0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases. Conclusions: Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.

4.
Invest Ophthalmol Vis Sci ; 60(8): 3135-3141, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31335951

RESUMO

Purpose: A posterior staphyloma has been reported to be present in some eyes with retinitis pigmentosa (RP), and the purpose of this study was to determine the macular curvature of non-highly myopic RP eyes. Methods: This was a retrospective, observational study. The medical charts of the right eyes of 143 patients with RP and 60 controls whose axial length ranged from 21.5 mm to 26.0 mm were reviewed. The mean curvature of Bruch's membrane within 6 mm of the central macula obtained from the horizontal optical coherence tomographic images were evaluated as the mean macular curvature index (MMCI). The relationships between the MMCI and other clinical factors were assessed. Results: The mean MMCI of RP patients (-13.73 ± 9.63 × 10-5 µm-1) was significantly lower than that of the controls (-6.63 ± 5.63 × 10-5 µm-1). This indicated a deeper concave shape of the macula in RP eyes (P < 0.001). The MMCI was significantly correlated with the age (r = 0.20; P = 0.016) and the axial length (r = -0.24; P = 0.004). Further analysis suggested a nonlinear effect of the ellipsoid zone width on the macular curvature in the RP eyes. Conclusions: There is a high incidence of steeper macular curvatures even in non-highly myopic RP eyes, and the steepness was also affected by the degree of photoreceptor degeneration.

5.
Nat Commun ; 10(1): 2884, 2019 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-31253780

RESUMO

Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease in homozygosis or heterozygosis, and yet is significantly enriched in HRD patients (frequency = 2.1%, i.e., a 3.5-fold enrichment; p-value = 9.2 × 10-5). Familial co-segregation and association analyses show that p.Arg1933* can act as a Mendelian mutation in trans with the Alu insertion, but might also associate with disease in combination with two alleles in the EYS gene in a non-Mendelian pattern of heredity. Our results suggest that rare conditions such as HRDs can be paradoxically determined by relatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritance.


Assuntos
Ciliopatias/genética , Proteínas do Olho/genética , Predisposição Genética para Doença , Doenças Retinianas/genética , Elementos Alu/genética , Grupo com Ancestrais do Continente Asiático/genética , Genômica , Humanos , Japão , Mutação , Linhagem
6.
Invest Ophthalmol Vis Sci ; 60(7): 2543-2550, 2019 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-31206141

RESUMO

Purpose: To determine the relationship between the amplitudes of the electrically evoked potentials (EEPs) and the number of optic nerve axons at a late stage of retinal degeneration in rhodopsin P347L transgenic (Tg) rabbits, a model of retinitis pigmentosa. Methods: Six eyes of six wild-type (WT) (43.8 ± 7.5 months of age) and six eyes of six Tg (40.3 ± 2.6 months of age) rabbits were studied. The EEPs were elicited by 1 to 5 mA of transcorneal electrical stimulation. The first positive wave, the P1 component, was analyzed. After euthanasia, the number of axons in the optic nerve was counted. Results: The threshold current to elicit a P1 was significantly higher in Tg rabbits than WT rabbits. The amplitude of P1 elicited by 5 mA in Tg rabbits was about 24% of that in WT rabbits (P < 0.01). The number of axons in the optic nerve of Tg rabbits was reduced to about 59% of that of WT rabbits (P < 0.01). The correlation between the axon number and the amplitude of the P1 in Tg and WT rabbits was not significant. The mean ratio of the P1 amplitude/axon in Tg rabbits was decreased to 53% of that in WT rabbits (P < 0.05). Conclusions: The degree of reduction in the EEP in Tg rabbits is more severe than the reduction in the number of optic nerve axons. The use of transcorneal electrical stimulation to determine the suitable candidates for prosthesis at the end-stage of retinitis pigmentosa may underestimate the condition of the optic nerves.

7.
J Med Genet ; 2019 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-31213501

RESUMO

BACKGROUND: The genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. Therefore, we conducted a large-scale sequencing study to investigate the genes and variants causing RP in a Japanese population. METHODS: A total of 1209 Japanese patients diagnosed with typical RP were enrolled. We performed deep resequencing of 83 known causative genes of RP using next-generation sequencing. We defined pathogenic variants as those that were putatively deleterious or registered as pathogenic in the Human Gene Mutation Database or ClinVar database and had a minor allele frequency in any ethnic population of ≤0.5% for recessive genes or ≤0.01% for dominant genes as determined using population-based databases. RESULTS: We successfully sequenced 1204 patients with RP and determined 200 pathogenic variants in 38 genes as the cause of RP in 356 patients (29.6%). Variants in six genes (EYS, USH2A, RP1L1, RHO, RP1 and RPGR) caused RP in 65.4% (233/356) of those patients. Among autosomal recessive genes, two known founder variants in EYS [p.(Ser1653fs) and p.(Tyr2935*)] and four East Asian-specific variants [p.(Gly2752Arg) in USH2A, p.(Arg658*) in RP1L1, p.(Gly2186Glu) in EYS and p.(Ile535Asn) in PDE6B] and p.(Cys934Trp) in USH2A were found in ≥10 patients. Among autosomal dominant genes, four pathogenic variants [p.(Pro347Leu) in RHO, p.(Arg872fs) in RP1, p.(Arg41Trp) in CRX and p.(Gly381fs) in PRPF31] were found in ≥4 patients, while these variants were unreported or extremely rare in both East Asian and non-East Asian population-based databases. CONCLUSIONS: East Asian-specific variants in causative genes were the major causes of RP in the Japanese population.

8.
Doc Ophthalmol ; 138(3): 205-215, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30929108

RESUMO

The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum protocol for clinical testing but encourages additional ERG testing when appropriate. This ISCEV extended protocol describes methods to record and evaluate a light-adapted (LA) ERG stimulus-response series with increasing flash strengths. The LA ERG stimulus-response series (also referred to as the luminance-response or intensity-response series in the published literature) can characterise generalised cone system function more comprehensively than the ISCEV standard LA ERGs alone. The amplitude of LA ERG a-waves, arising from cones and cone off-bipolar cells, typically shows a saturating function. The LA ERG b-wave amplitudes, which arise primarily from activity of retinal bipolar cells, show an amplitude peak followed by a nonzero plateau (the "photopic hill" phenomenon). This ISCEV extended protocol specifies a stimulus-response series suitable to evaluate generalised dysfunction affecting the LA retina, to aid in distinguishing between the on- and off-responses of the cone system and to monitor ERG changes in these characteristics. The LA ERG stimulus-response series for a- and b-waves is recorded to a sequence of nine flash stimuli ranging from 0.03 to 300 cd s m-2, superimposed on a standard background of 30 cd m-2. A shorter protocol is also presented to measure the mid-range of the function (the "photopic hill") using 5 flash stimuli.


Assuntos
Protocolos Clínicos/normas , Eletrorretinografia/métodos , Oftalmopatias Hereditárias/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Luz , Miopia/fisiopatologia , Cegueira Noturna/fisiopatologia , Estimulação Luminosa/métodos , Retina/fisiopatologia , Adulto , Humanos , Oftalmologia/organização & administração , Células Fotorreceptoras Retinianas Cones/fisiologia , Sociedades Médicas/organização & administração
9.
Exp Eye Res ; 184: 192-200, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31029790

RESUMO

Long living animal models of retinitis pigmentosa (RP) can provide important information on the retinal changes that occur at the late stages of photoreceptor degeneration. The rhodopsin Pro347Leu transgenic rabbit (P347L Tg) is a model of RP, and it has been used to analyze the functional and morphological changes in the retina following the degeneration of the photoreceptors. They have also been used to test newly-developed therapies to treat eyes with photoreceptor degeneration. However, assessments of the retinal changes in P347L Tg rabbits older than 1-year have not been reported even though the data are important for research on developing new therapies to restore vision at the end stages of RP. The purpose of this study was to determine the time course of the loss of photoreceptor function and the changes in the morphology of the retina of P347L Tg rabbits. The experiments were performed on 26 older P347L Tg rabbits. The results showed that the amplitudes of the ERGs of the P347L Tg rabbits gradually decreased and reached <10 µV between 30- and 54-months-of-age. Histological analysis at these later stages showed a loss of the photoreceptor layer, and OCT analysis showed absence of the layering of the retina. However, the thickness between the inner limiting membrane and the outer plexiform layer was about 1.7 times thicker than the corresponding thickness of WT rabbits in the OCT images. This thickening was caused by a marked gliosis of the entire retina which was confirmed by light and transmission electron microscopy. In addition, immunohistochemical analysis showed there was excessive staining of the glial fibrillary acid protein in the older P347L Tg rabbits although the rod ON bipolar cells and horizontal cells were still present in the inner nuclear layer. Our results indicate that the P347L Tg rabbit progressed to complete photoreceptor loss within 30- and 54-months-of-age and severe gliosis altered the morphology of the retina.

10.
Doc Ophthalmol ; 138(3): 229-239, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30877594

RESUMO

PURPOSE: To report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR). METHODS: Ophthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed. Identified KCNV2 variants were confirmed by Sanger sequencing. RESULTS: A 30-year-old female patient was referred to our hospital for assessment of decreased vision from childhood. Funduscopy showed macular atrophy in both eyes. FF-ERG showed decreased amplitudes and delayed peak time of b-waves for dark-adapted (DA) 0.01 ERG, increased b/a-wave ratio with a slightly diminished a-wave for DA 3.0 and DA 25.7 ERG, residual a-waves and almost extinguished b-waves for light-adapted (LA) 3.0 ERG, and extremely diminished amplitudes in LA 30-Hz flicker responses. At 45 years of age, funduscopy showed progressive macular atrophy, whereas the responses for her FF-ERG remained unchanged compared to those observed at 30 years of age. WES identified the compound heterozygous KCNV2 variants (p.W67X and p.D174GfsX198) in the patient. These variants have previously been unreported as pathogenic variants. Each parent had one of the variants. Subsequently, the patient was finally diagnosed with CDSRR with the novel compound heterozygous KCNV2 variants. CONCLUSIONS: Biallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy.


Assuntos
Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Retinite Pigmentosa/genética , Adulto , Eletrorretinografia , Feminino , Seguimentos , Humanos , Oftalmoscopia , Linhagem , Retinite Pigmentosa/diagnóstico , Retinite Pigmentosa/fisiopatologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Campos Visuais/fisiologia , Sequenciamento Completo do Exoma
11.
Jpn J Ophthalmol ; 63(2): 172-180, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30604114

RESUMO

PURPOSE: To report the findings in 3 cases of bilateral negative electroretinograms (ERGs) with acute onset of photophobia. STUDY DESIGN: Retrospective case series. METHODS: The medical charts of the 3 patients were reviewed. RESULTS: A 43-year-old woman, a 68-year-old woman, and a 41-year-old woman were referred to Nagoya University Hospital. Their main symptom was bilateral acute photophobia. None of the patients had any systemic diseases or specific medical history. The decimal best-corrected visual acuity (> 0.8) and Humphrey visual fields (mean deviation > -3 dB) were relatively well preserved in all 3 patients. The optical coherence tomography (OCT) and fundus autofluorescence findings were essentially normal. Fluorescein angiography showed mild leakage in 1 patient but no abnormality in the other 2 patients. However, the ERGs of the 3 patients had the features of abnormal ERGs found in patients with incomplete congenital stationary night blindness (CSNB). Exome analyses found no pathogenic variants related to known CSNB-related genes. The symptoms and ERGs of the 3 patients have not progressed or recovered after a relatively long follow-up period. CONCLUSION: The ERG characteristics of 3 patients with bilateral photophobia were similar to those of incomplete CSNB, suggesting post-phototransductional abnormalities. The symptoms and genetic analyses indicated the possibility of an acquired condition rather than a hereditary retinal disease.


Assuntos
Oftalmopatias Hereditárias/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Miopia/complicações , Cegueira Noturna/complicações , Fotofobia/diagnóstico , Acuidade Visual , Doença Aguda , Adulto , Idoso , Diagnóstico Diferencial , Eletrorretinografia/métodos , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Miopia/diagnóstico , Miopia/fisiopatologia , Cegueira Noturna/diagnóstico , Cegueira Noturna/fisiopatologia , Fotofobia/etiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica
12.
Invest Ophthalmol Vis Sci ; 59(15): 5854-5861, 2018 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-30550616

RESUMO

Purpose: To determine the clinical characteristics, prognosis, and effect of anti-vascular endothelial growth factor (VEGF) agents on eyes with a central retinal vein occlusion (CRVO) with and without supernormal flicker ERG amplitudes. Methods: Forty-eight eyes of 48 patients with a CRVO were studied. Flicker ERGs were recorded from fully dilated eyes with the RETeval system. The amplitudes and implicit times of the fundamental component were analyzed. "Supernormal flicker ERGs" were defined as those whose amplitudes were ≥117% of the unaffected fellow eyes. Results: Ten of the 48 eyes (20.8%) with a CRVO showed supernormal flicker ERGs before the treatment. The difference in the implicit times of these 10 CRVO eyes and those of normal fellow eyes was <4 millisecond. There was a significant correlation between the implicit time delay and the relative amplitude in the 48 CRVO eyes. All 10 CRVO eyes with supernormal flicker ERGs had the nonischemic type of CRVO and tended to have better visual acuities than did the 28 nonischemic CRVO eyes without supernormal flicker ERGs at 12 months after the treatment (P = 0.058). The CRVO eyes with supernormal flicker ERGs had a significant amplitude reduction after a single injection of an anti-VEGF agent. Conclusions: These results indicated that the supernormal flicker ERGs can be a sign of a mild degree of ischemia, and these eyes have a better prognosis. The results also suggest that the supernormal flicker ERG may be caused by changes in the electrical activities of retinal cells following a mild increase in the VEGF levels in eyes with CRVO.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Eletrorretinografia/métodos , Fusão Flicker/fisiologia , Retina/fisiopatologia , Oclusão da Veia Retiniana/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Angiofluoresceinografia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Oclusão da Veia Retiniana/tratamento farmacológico , Oclusão da Veia Retiniana/fisiopatologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia
13.
Retina ; 2018 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-30308565

RESUMO

PURPOSE: To assess the morphological changes of cone photoreceptors in eyes with autosomal recessive bestrophinopathy. METHODS: Both eyes of five patients with autosomal recessive bestrophinopathyunderwent spectral domain optical coherence tomography and adaptive optics fundus imaging. The cone photoreceptor densities were measured at intervals of 100 µm between 500 µm nasal and temporal eccentricities from the foveal center. RESULTS: The median age of the patients was 30 years (range, 23-45 years), and the best-corrected visual acuity ranged from 20/20 to 20/80. Adaptive optics fundus images showed reduced cone photoreceptor densities corresponding to the damages of the photoreceptor layer in the spectral domain optical coherence tomography images in four patients with relatively good best-corrected visual acuity. The cone photoreceptor densities at the center of the fovea were less than one-third of the normal cone densities (range 11,600-30,400 cells/mm). Cone photoreceptor mosaics were visible over the lesions with serous retinal detachment and retinal edema, although they were partially hyporeflective. CONCLUSION: There is a significant cone photoreceptor loss in the macular region of patients with autosomal recessive bestrophinopathy, although they had relatively good visual acuity. Monitoring cone photoreceptors by adaptive optics fundus imaging should provide accurate assessments of the disease status and indications for future therapeutic interventions.

14.
Retina ; 2018 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-30260920

RESUMO

PURPOSE: To report the clinical course of eyes with paraneoplastic retinopathy caused by an autoantibody against transient receptor potential cation channel, subfamily M, member 1 (TRPM1). METHODS: Ten paraneoplastic retinopathy patients with retinal ON-bipolar cell dysfunction, including six melanoma-associated retinopathy, from eight institutions in Japan were evaluated for the presence of an anti-TRPM1 antibody. The results of ophthalmic examinations and the presence of anti-TRPM1 antibody were analyzed. RESULTS: Five patients were positive for the anti-TRPM1 antibody. These patients had similar clinical findings in both eyes at the time of diagnosis; relatively preserved best-corrected visual acuity, absence of fundus and optical coherence tomography abnormalities, and specific abnormalities of the electroretinography (ERG); and negative-type ERGs with bright stimulus flashes. One patient whose retinal ON-bipolar cells remained dysfunctional for the entire testing period, although the anti-TRPM1 antibody had disappeared. On the other hand, the ERGs recovered in 2 cases within 2 years after the onset. One case progressed to additional impairment of the photoreceptors with deterioration of ERGs. One case died and the clinical course was unavailable. CONCLUSION: Paraneoplastic retinopathy patients with retinal ON-bipolar cell dysfunction possess autoantibodies against TRPM1 at the onset of the disease process; however, the clinical course of these eyes can be different.

15.
Sci Rep ; 8(1): 11507, 2018 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-30065301

RESUMO

Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM. In Case 1, only one gene was present. Abnormalities were found in the promoter, which had a mixed unique profile of first and downstream gene promoters and a -71A > C substitution. As the promoter was active in the reporter assay, the cause of BCM remains unclear. In Case 2, the same novel mutation, M273K, was present in exon 5 of both genes in a two-gene array. The mutant pigments showed no absorbance at any of the wavelengths tested, suggesting that the mutation causes pigment dysfunction. Case 3 had a large deletion including the locus control region and entire first gene. Case 4 also had a large deletion involving exons 2-6 of the first gene. As an intact LCR was present upstream and one apparently normal downstream gene was present, BCM in Case 4 was not ascribed solely to the deletion. The deletions in Cases 3 and 4 were considered to have been caused by non-homologous recombination.

16.
Invest Ophthalmol Vis Sci ; 59(8): 3469-3475, 2018 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-30025100

RESUMO

Purpose: To determine the relationship between the sensitivity of the retina in the central 10° and the thickness of the retinal layers in patients with retinitis pigmentosa (RP). Methods: Fifty-two RP patients were studied. All of the patients had been examined by the Humphrey Field Analyzer 10-2 program (HFA10-2) and spectral-domain optical coherence tomography (SD-OCT). The thicknesses of the photoreceptor outer segment (OS), outer nuclear layer (ONL), inner nuclear layer (INL), and the retinal nerve fiber layer (RNFL) were measured at 1°, 3°, 5°, 7°, and 9° from the fovea. The same measurements were made on the SD-OCT images of 40 healthy subjects and used as controls. The relationships between the retinal sensitivities and retinal layer thicknesses were determined. Results: The thicknesses of the OS and ONL and their product were significantly and positively correlated with the retinal sensitivities. The thickness of the INL was significantly and negatively correlated with the sensitivity. The strongest correlation with the sensitivity was with the OS thickness (marginal R2 [mR2] = 0.525, P < 0.001), followed by the product of the OS and ONL thicknesses (mR2 = 0.420, P < 0.001), ONL thickness (mR2 = 0.416, P < 0.001), and the INL thickness (mR2 = 0.014, P = 0.044). The thickness of the RNFL was not correlated with the sensitivity (mR2 = 0.005, P = 0.331). Conclusions: In contrast to previous reports, the thickness of the OS reflected the retinal sensitivity better than the product of OS and ONL.

17.
J Diabetes Investig ; 9(5): 1203-1211, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29493881

RESUMO

AIMS/INTRODUCTION: The present multicenter, cross-sectional survey was initiated to evaluate self-monitoring of blood glucose (SMBG)-associated mental distress among patients with diabetes. MATERIALS AND METHODS: The survey was carried out in patients with type 1 diabetes and type 2 diabetes using SMBG recruited from 42 medical institutions. Profiles of Mood States 2 and diabetes therapy-related quality of life questionnaires were used to evaluate mood status and health-related quality of life. Two original questionnaires were also developed to evaluate SMBG 'importance,' 'painfulness' and 'confidence' among patients, and to evaluate physician attitudes to SMBG use. RESULTS: Questionnaires from 517 type 1 diabetes and 1,648 type 2 diabetes patients showed that 46.0% of type 1 diabetes and 37.5% of type 2 diabetes patients reported 'painfulness,' and that these patients reporting 'painfulness' showed significantly higher Profiles of Mood States 2 scores, lower diabetes therapy-related quality of life scores and higher glycated hemoglobin compared with those not reporting 'painfulness,' whereas the number of their daily SMBG tests were comparable. Patients reporting 'painfulness' also reported that SMBG use was significantly less important. Whether or not patients recognized the importance of SMBG use was well correlated with the frequency of physicians checking patient diaries. CONCLUSIONS: Type 1 diabetes and type 2 diabetes patients reporting 'painfulness' in SMBG use had more mental distress, lower health-related quality of life and higher glycated hemoglobin regardless of their number of daily SMBG tests. The importance of SMBG use was recognized less by patients experiencing pain, and the importance of SMBG use was recognized more in medical institutions in which physicians regularly checked SMBG diaries to provide meaningful feedback to patients in clinical settings.

18.
Invest Ophthalmol Vis Sci ; 59(1): 433-438, 2018 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-29365150

RESUMO

Purpose: To evaluate the microvascular changes in eyes with RP quantitatively using optical coherence tomography angiography (OCTA) and to determine whether the correlations between these indices and the severity of RP are significant. Methods: This was a retrospective, observational study. The medical records of 53 RP patients and 46 controls were reviewed. The OCTA images were obtained with the Cirrus 5000 with Angioplex, and an automated program was used to analyze the microvascular patterns. The perfusion density (PD) and vessel length density (VLD) were used as indices of the microvascular density, whereas the vessel diameter index (VDI) was used as a measure of the caliber of the vessels. The width of the ellipsoid zone (EZ) in the OCT images and the mean deviation (MD) of the Humphry Field Analyzer (HFA) were used to determine the severity of the RP. Student's t-tests and Spearman's correlation tests were used. Results: Both the PD and VLD in the superficial and deep plexuses and the whole retina were significantly reduced, and the VDI was significantly increased in RP patients compared with the corresponding values of the controls (P < 0.001). Spearman's rank tests indicated the RP severity was significantly correlated with the PD and VLD in all three layers (P < 0.001, r ranging from 0.50 to 0.87) and significantly correlated with VDI in the deep and the whole retina (P < 0.001, ranging from -0.64 to -0.73). Conclusions: Quantitative changes in the microvascular density might be useful for examining the pathophysiology of RP.


Assuntos
Vasos Retinianos/fisiopatologia , Retinite Pigmentosa/fisiopatologia , Adolescente , Adulto , Idoso , Angiografia por Tomografia Computadorizada , Feminino , Angiofluoresceinografia , Humanos , Masculino , Microvasos/diagnóstico por imagem , Microvasos/fisiopatologia , Pessoa de Meia-Idade , Vasos Retinianos/diagnóstico por imagem , Retinite Pigmentosa/diagnóstico por imagem , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto Jovem
19.
Ophthalmic Genet ; 39(2): 255-262, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29220607

RESUMO

BACKGROUND: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. MATERIALS AND METHODS: The medical chart of one case diagnosed with cone dystrophy was reviewed. RESULTS: The patient was a 20-year-old Japanese man whose chief complaint was a progressive decrease in his central vision. His decimal best-corrected visual acuity was 0.2 for the right and 0.3 for the left. Fundus examinations showed no abnormalities. The photopic electroretinograms were nonrecordable, but the scotopic electroretinograms were within normal limits. Optical coherence tomography detected a blurry line in the region of the external limiting membrane and ellipsoid zone. Adaptive optics images showed sparsely distributed cone cells around the fovea. The patient was initially diagnosed with incomplete achromatopsia. Whole-exome sequence with targeted analysis identified new compound heterozygous mutations of c.G1355A (p R452Q) and c.C987A (pY329X) in the POC1B gene. The patient was then diagnosed with cone dystrophy. CONCLUSIONS: The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases.

20.
Retina ; 38(7): 1354-1360, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-28538263

RESUMO

PURPOSE: To determine the prognosis of eyes with central retinal vein occlusion that had a preserved foveal depression at the baseline and were treated by intravitreal ranibizumab injections (IRIs). METHODS: The authors reviewed the medical records of 23 eyes of 23 consecutive treatment-naive patients who received IRIs to treat the macular edema due to central retinal vein occlusion. Eyes were classified by the pre-IRI presence or absence of a foveal depression. A foveal depression was defined as a central foveal thickness that was <50 µm thinner than the average thickness at 200 µm temporal and nasal to the central fovea. The characteristics of the two groups were compared. RESULTS: Seven of 23 eyes had a preserved foveal depression before the IRI. The mean number of injections within 12 months after the initial IRI was significantly fewer (P < 0.001) in eyes with foveal depression (1.6 ± 0.5) than in eyes without foveal depression (4.3 ± 1.3). The mean best-corrected visual acuity at 12 months after the initial IRI was significantly better (P = 0.003) in eyes with foveal depression (0.10 ± 0.17 logarithm of the minimum angle of resolution [logMAR] units; 20/25 Snellen units) than in eyes without foveal depression (0.77 ± 0.54 logMAR units; 20/118 Snellen units). CONCLUSION: These results indicate that the prognosis is better for eyes with a foveal depression before the IRI treatment for a macular edema secondary to central retinal vein occlusion.


Assuntos
Angiofluoresceinografia/métodos , Fóvea Central/patologia , Edema Macular/tratamento farmacológico , Ranibizumab/administração & dosagem , Oclusão da Veia Retiniana/complicações , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Inibidores da Angiogênese/administração & dosagem , Relação Dose-Resposta a Droga , Feminino , Fóvea Central/efeitos dos fármacos , Fundo de Olho , Humanos , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/tratamento farmacológico
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