Case of acute zonal occult outer retinopathy with abnormal pattern visual evoked potentials

Electrophysiological and morphological findings were studied in a case of acute zonal occult outer retinopathy (AZOOR) showing abnormal pattern visual evoked potentials (VEPs) at the onset and significant functional recovery in the natural course. A 21-year-old woman presented with acute onset of photopsia and a large scotoma in the right eye of 2 weeks duration. Her visual acuity was 20/20 in both eyes with no ophthalmoscopic and fluorescein angiographic abnormalities. However, a relative afferent pupillary defect and an enlarged blind spot were found in the right eye. The pattern VEPs were severely reduced when the right eye was stimulated. The amplitudes of both rod and cone full-field electroretinographics (ERGs) were reduced in the right eye. The amplitudes of the multifocal ERGs were reduced in the area of the enlarged blind spot. Irregularities in the inner segment/outer segment (IS/OS) line of the photoreceptors were observed over the nasal fovea by optical coherence tomography (OCT). The patient was followed without treatment. The enlarged blind spot disappeared in 3 months after the onset. At 5 months, reappearance of the IS/OS line was detected by OCT. At 6 months, the P100 recovered to normal values. At 1 year, the reduced full-field ERGs were almost normal size and the multifocal ERGs in the area corresponding to the enlarged blind spot were also improved. ERG findings are crucial for differentiating AZOOR from retrobulbar neuritis, especially in patients with abnormal pattern VEPs. The pattern VEPs, full-field ERGs, multifocal ERGs, and OCT images can be abnormal in the early phase of AZOOR, but they can all improve during the natural course

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort

KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3

BACKGROUND/AIMS: To investigate genotype–phenotype associations in patients withKCNV2retinopathy. METHODS: Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination ofKCNV2variants—two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)—and parameters were compared. RESULTS: Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants. CONCLUSIONS: Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials

Dietary trends in patients with fecal incontinence compared with the National Health and Nutrition Survey

Objectives: Dietary guidance for patients with fecal incontinence (FI) in Japan is lacking. Here, we sought to investigate dietary trends of patients with FI. Methods: We performed a comparative study of dietary intake par day between patients with FI and the national mean. Our study group consisted of 100 female patients who consulted a dietitian about meals between June 2015 and March 2017. For national mean values, we used results from 3,332 women included in the 2015 National Health and Nutrition Survey (NHNS). Survey items included dietary fiber (DF), rice, wheat products, vegetables, fruits, and snacks. Results: No significant difference with respect to the overall DF (14.2 and 14.5 g, respectively; P=0.517) and vegetables (277.0 and 282.7 g, respectively; P=0.692) consumption was observed between the intake values reported in patients with FI and in NHNS. The intake of patients with FI was significantly lesser than that reported in NHNS for rice consumption (184.3 and 262.1 g, respectively; P<0.001). The intake of patients with FI was significantly higher than that reported in NHNS for wheat products (116.0 and 97.1 g, respectively; P<0.001), fruits (151.3 and 116.7 g, respectively; P=0.002), and snacks (45.5 and 28.8 g, respectively; P<0.001) consumption. Conclusions: Dietary trends for patients with FI revealed that the intake of rice was less, whereas that of wheat products, fruits, and snacks was much higher. Although the overall DF intake was about the same as the national mean, our results suggest that contents of DF differ between patients with FI and the NHNS

Crystallization and preliminary crystallographic studies of putative RNA 3′-terminal phosphate cyclase from the crenarchaeon Sulfolobus tokodaii

RNA 3′-terminal phosphate cyclase from the crenarchaeon S. tokodaii has been overexpressed and purified. The apo form, its selenomethionine derivative and their complexes with ATP under different conditions have been crystallized. The structure of the selenomethionine-labelled form has been successfully solved by the Se-MAD method

Three cases of acute-onset bilateral photophobia

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