One-year results of anti-vascular endothelial growth factor therapy combined with triamcinolone acetonide for macular edema associated with branch retinal vein occlusion.

Purpose: To compare anti-vascular endothelial growth factor (anti-VEGF) monotherapy with anti-VEGF therapy combined with sub-Tenon's capsule injections of triamcinolone acetonide (STTA) in patients with macular edema (ME) associated with branch retinal vein occlusion (BRVO).

Study Design: Retrospective observational study METHODS: This study included 186 eyes: 138 eyes received intravitreal injection of ranibizumab (IVR), and the remaining 48 eyes received IVR combined with STTA therapy. If additional IVR were necessary, STTA were performed simultaneously.

Ranibizumab treatment improves diabetic macular oedema without influencing retinal oximetry parameters.

Purpose: To evaluate the effect of ranibizumab on retinal oximetry in eyes with diabetic macular oedema (DME).

Methods: In this prospective interventional study, 30 eyes (30 patients) with DME were treated with three-monthly intravitreal ranibizumab injections, followed by pro re nata administration for 12 months. Retinal oximetry was performed using an Oxymap T1.

Retinal oximetry in branch retinal vein occlusion.

Purpose: To measure retinal oxygen saturation (SO ) in eyes with branch retinal vein occlusion (BRVO).

Methods: Retinal oximetry was performed using the Oxymap T1 retinal oximeter in 50 eyes (50 patients) with resolved BRVO. SO was calculated in each major retinal artery and vein in four quadrants.

Persistent metamorphopsia associated with branch retinal vein occlusion.

Purpose: To investigate longitudinal changes in metamorphopsia associated with branch retinal vein occlusion.

Methods: In this prospective observational case series, we included 32 eyes (32 patients) with branch retinal vein occlusion and acute macular edema. Eyes were treated as needed with intravitreal ranibizumab injections for 12 months.

Elevated plasma aldosterone levels are associated with a reduction in retinal ganglion cell survival.

Objective: The purpose of this article is to investigate the relationship between the plasma concentration of aldosterone and changes in the number of retinal ganglion cells (RGCs) after systemic administration of aldosterone.

Methods: An osmotic minipump that was subcutaneously implanted into the midscapular region of rats administered 40, 80 or 160 μg/kg/day aldosterone or vehicle. Enzyme immunoassay kits were used to measure the plasma aldosterone concentrations two weeks after the systemic administration of aldosterone or vehicle.

One-year outcomes of fixed treatment of intravitreal aflibercept for exudative age-related macular degeneration and the factor of visual prognosis.

The aim of this study was to investigate the efficacy of periodic intravitreal aflibercept (IVA) in exudative age-related macular degeneration, and to explore the predictive factors for visual outcome.This is a prospective interventional case series.Fifty-two eyes of 52 treatment-naïve age-related-macula-degeneration patients were enrolled.

Clinical Features of Central Serous Chorioretinopathy With Type 1 Choroidal Neovascularization.

Purpose: To evaluate the type 1 choroidal neovascularization (CNV) incidence and associated factors in eyes with central serous chorioretinopathy (CSC).

Design: Retrospective case series.

Methods: Records of 363 eyes (324 patients) with CSC were reviewed.

MACULAR ATROPHY FINDINGS BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY COMPARED WITH FUNDUS AUTOFLUORESCENCE IN TREATED EXUDATIVE AGE-RELATED MACULAR DEGENERATION.

Purpose: To compare the areas of choriocapillaris (CC) nonperfusion and macular atrophy (MA) in treated exudative age-related macular degeneration.

Methods: This was a prospective, observational, cross-sectional study. Forty-four eyes exhibiting MA (42 patients with age-related macular degeneration), with a dry macula, underwent fundus autofluorescence and optical coherence tomography angiography.

Metamorphopsia associated with central retinal vein occlusion.

This prospective study aimed to investigate metamorphopsia in eyes with central retinal vein occlusion (CRVO) and included 28 eyes (28 patients) with unilateral CRVO that had macular edema (ME) in the acute phase. The ME was treated with anti-vascular endothelial growth factor agents. At baseline and at 1 and 6 months after initiation of treatment, quantitative measurements of metamorphopsia were performed using M-CHARTS and the retinal morphologic changes were examined by optical coherence tomography.

Anti-Vascular Endothelial Growth Factor Therapy for Macular Edema following Central Retinal Vein Occlusion: 1 Initial Injection versus 3 Monthly Injections.

Purpose: To compare the 12-month efficacy of 1 initial intravitreal injection of an anti-vascular endothelial growth factor (VEGF) agent followed by pro re nata (PRN) dosing with that of 3 initial monthly injections followed by PRN dosing in patients with macular edema (ME) after central retinal vein occlusion (CRVO).

Methods: Twenty-nine eyes received 1 initial injection (1+PRN group) and 20 received 3 monthly injections (3+PRN group).

Results: At month 12, changes in logMAR visual acuity from baseline were -0.

CLINICAL FEATURES OF TREATED AND UNTREATED TYPE 1 IDIOPATHIC MACULAR TELANGIECTASIA WITHOUT THE OCCURRENCE OF SECONDARY CHOROIDAL NEOVASCULARIZATION FOLLOWED FOR 2 YEARS IN JAPANESE PATIENTS.

Purpose: To evaluate the clinical features of Type 1 idiopathic macular telangiectasia (IMT) followed up for 2 years.

Methods: Forty-nine patients with unilateral Type 1 IMT were examined. Thirty-one IMT eyes were treated with direct laser photocoagulation and/or intravitreal bevacizumab; the remaining 18 eyes, with good vision or slight macular edema, were untreated.

The effect of vitreomacular and cataract surgery on oxygen saturation in retinal vessels.

Purpose: To evaluate the effects of vitreomacular and cataract surgery on retinal oximetry in vitreomacular disease.

Patients And Methods: Thirty-eight eyes with epiretinal membrane (ERM) and 15 with idiopathic macular hole (MH) underwent 25 gauge pars plana vitrectomy combined with cataract surgery and intraocular lens implantation. Retinal oximetry was performed using the Oxymap T1 before, 1 month, and 6 months after surgery.

ASSOCIATION BETWEEN PARAFOVEAL CAPILLARY NONPERFUSION AND MACULAR FUNCTION IN EYES WITH BRANCH RETINAL VEIN OCCLUSION.

Purpose: To investigate the parafoveal perfusion status of the superficial and deep capillary layer in eyes with resolved branch retinal vein occlusion, and to study its effects on retinal sensitivity.

Methods: In 27 enrolled eyes (27 patients) with resolved branch retinal vein occlusion, superficial and deep capillaries in the macular area (3- × 3-mm, centered on the fovea) were examined with optical coherence tomography angiography. Retinal sensitivity was examined with fundus-monitored microperimetry.

Clinical and genetic features of lysinuric protein intolerance in Japan.

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acid caused by mutations in solute carrier family 7 amino acid transporter light chain, y L system, member 7 (SLC7A7). This disorder occurs worldwide, especially in Finland and Japan, where founder effect mutations have been reported. Detailed features of the clinical symptoms and mutation types in Japanese LPI, however, remain unclear to date.

Intestinal microbiota and secretory immunoglobulin A in feces of exclusively breast-fed infants with blood-streaked stools.

Episodes of blood-streaked stools are not uncommon in exclusively breast-fed infants under 6 months of age. Such bleeding is thought to be associated with food protein-induced proctocolitis, however the pathomechanism remains unclear. The aim of this study was to investigate intestinal microbiota and secretory immunoglobulin A in the feces of exclusively breast-fed infants with blood-streaked stools.

Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: report of a case.

We report the case of a 7-year-old girl with ornithine transcarbamylase deficiency whose quality of life (QOL) improved greatly after a living donor liver transplantation (LDLT). Ornithine transcarbamylase deficiency had been diagnosed when she was 2 years old and she finally underwent LDLT, with her father as the donor, when she was 7 years old. The patient had suffered episodes of hyperammonemic encephalopathy ranging from lethargy to coma, treated by hemodialysis twice before LDLT, and her intelligence quotient was borderline for her age.

Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.

Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. We recently reported a local cluster of LPI in the northern part of Japan (Koizumi et al., 2000).

A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.

Historical aspects of a local cluster of individuals with lysinuric protein intolerance (LPI) were studied in a sample of patients and in a mass-screened population in a northern area of Japan. The historical aspects were investigated by estimating the mutation age and analyses of haplotype diversity of the chromosome carrying the R410X mutation. This mutation occurred over 1000 years ago, and its fixation in the local cluster suggests that LPI had been a nearly neutral phenotype.

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfully identified five novel SLC7A7 variants (S238F, S489P, 1630delC, 1673delG, and IVS3-IVS5del9.

A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group.

Lysinuric protein intolerance is an autosomal recessive disease characterized by defective transport of the dibasic aminoacids. Mutational analysis of LPI patients in the northern part of Japan revealed that six were homozygous for the R410X mutation and two others were compound heterozygotes of R410X and other unknown mutations. In the population epidemiology study in a local cluster in the northern part of Iwate, ten heterozygotes were found in 1190 newborn babies leading to an estimated LPI incidence of 1/57,000.

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.

Lysinuric protein intolerance (LPI) is a rare inherited disease caused by defective transport of the dibasic amino acids at the basolateral membranes of epithelial cells in the renal tubules and small intestine. The metabolic defect leads to brain dysfunction caused by hyperammonemia with a functional impairment of the urea cycle. Recently, mutations in the human SLC7A7 cDNA coding for y(+)LAT-1, which express dibasic amino acid transport activity, were reported to be responsible for LPI.

Axial spondylometaphyseal dysplasia.

Unlabelled: We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings.

Patent ductus venosus with hypoplastic right hepatoportal system in a young child born with asymmetric intra-uterine growth retardation.

We report a functioning ductus venosus with hypoplasia of the right hepatoportal system in a 2-year-old child born with asymmetric intra-uterine growth retardation. Postprandial galactosaemia and hyperammonaemia were clues to diagnosis of portal-systemic shunt through the patent ductus venosus, which was confirmed by ultrasonography and angiography.