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It is unclear whether serum proteins can serve as biomarkers to reflect pathological changes and predict recovery in inflammation of optic nerve. We evaluated whether serum proteins could monitor and prognosticate optic neuritis (ON). We prospectively recruited consecutive patients with recent ON, classified as ON with anti-aquaporin-4 antibody (AQP4-ON), ON with anti-myelin oligodendrocyte glycoprotein antibody (MOG-ON), and double-seronegative ON (DSN-ON). Using ultrasensitive single-molecule array assays, we measured serum neurofilament light chain and glial fibrillary acidic protein (GFAP), and brain-derived neurotrophic factor (BDNF). We analyzed the markers according to disease group, state, severity, and prognosis. We enrolled 60 patients with recent ON (15 AQP4-ON; 14 MOG-ON; 31 DSN-ON). At baseline, AQP4-ON group had significantly higher serum GFAP levels than did other groups. In AQP4-ON group, serum GFAP levels were significantly higher in the attack state than in the remission state and correlated with poor visual acuity. As a prognostic indicator, serum BDNF levels were positively correlated with follow-up visual function in the AQP4-ON group (r = 0.726, p = 0.027). Serum GFAP reflected disease status and severity, while serum BDNF was identified as a prognostic biomarker in AQP4-ON. Serum biomarkers are potentially helpful for patients with ON, particularly those with AQP4-ON., (© 2023. The Author(s).)

The present study investigated the characteristics of choroidal microvasculature dropout (CMvD) in eyes with nonarteritic anterior ischemic optic neuropathy (NAION) versus those in eyes with normal-tension glaucoma (NTG). This study included 27 NAION, 27 NTG, and 27 healthy control subjects. CMvD was observed in 15 eyes (55.6%) of the NAION group and 20 (74.1%) of the NTG group. The area and angular width of CMvD were significantly greater in eyes with NAION (0.278 ± 0.172 mm 2 and 86.5 ± 42.3°) than in those with NTG (0.138 ± 0.068 mm 2 and 35.1 ± 16.2°, p = 0.002 and p < 0.001, respectively). CMvD in eyes with NAION were distributed in 120-250° and most frequently located at the temporal region, while CMvD in eyes with NTG showed double peaks at 220-280° and 110-140° and most frequently located at the inferotemporal region. The factors associated with the discrimination of NAION from NTG were greater area of CMvD (OR, 1.181; 95% CI, 1.021-1.366; p = 0.025) and location closer to the temporal region of the CMvD (OR, 0.904; 95% CI, 0.838-0.975; p = 0.009). The clinical characteristics of CMvD differed between eyes with NAION and those with NTG. Optical coherence tomography angiography may provide an additional approach to differentiating glaucoma from NAION., (© 2021. The Author(s).)

Mobile element insertions (MEIs) typically exceed the read lengths of short-read sequencing technologies and are therefore frequently missed. Recently, a founder Alu insertion in exon 4 of RP1 has been detected in Japanese patients with macular dystrophy by PCR and gel electrophoresis. We aimed to develop a grep search program for the detection of the Alu insertion in exon 4 of RP1 using unprocessed short reads. Among 494 unrelated Korean patients with inherited eye diseases, 273 patients with specific retinal phenotypes who were previously genotyped by targeted panel or whole exome sequencing were selected. Five probands had a single heterozygous truncating RP1 variant, and one of their unaffected parents also carry this variant. To find a hidden genetic variant, whole genome sequencing was performed in two patients, and it revealed AluY c.4052&#95;4053ins328/p.(Tyr1352Alafs*9) insertion in RP1 exon 4. This AluY insertion was additionally identified in other 3 families, which was confirmed by PCR and gel electrophoresis. We developed simplified grep search program to detect this AluY insertion in RP1 exon 4. The simple grep search revealed a median variant allele frequency of 0.282 (interquartile range, 0.232-0.383), with no false-positive results using 120 control samples. The MEI in RP1 exon 4 was a common founder mutation in Korean, occurring in 1.8% of our cohort. The RP1-Alu grep program efficiently detected the AluY insertion, without the preprocessing of raw data or complex installation processes.

Ametropia is reported as a common ophthalmic manifestation in craniosynostosis. We retrospectively compared childhood refractive error and ocular biometric features of fibroblast growth factor receptor (FGFR)-related syndromic craniosynostosis patients with those of non-syndromic craniosynostosis and control subjects. Thirty-six eyes (18 patients) with FGFR-related syndromic craniosynostosis, 76 eyes (38 patients) with non-syndromic craniosynostosis, and 114 eyes (57 patients) of intermittent exotropes were included in the analysis. Mean age at examination was 7.82 ± 2.51 (range, 4-16) years and mean spherical equivalent was -0.09 ± 1.46 Diopter. Mean age and refractive error were not different between groups, but syndromic craniosynostosis patients had significantly longer axial length, lower corneal power, and lower lens power than other groups (p < 0.01, p < 0.01, and p < 0.01, respectively). Axial length was positively correlated and keratometry and lens power were negatively correlated with age in non-syndromic craniosynostosis and controls, while these correlations between age and ocular biometric parameters were not present in the FGFR-related syndromic craniosynostosis. In conclusion, ocular biometric parameters in FGFR-related syndromic craniosynostosis differed from those of non-syndromic craniosynostosis and age-matched controls, and did not show the relations with age, suggesting this cohort may have abnormal refractive growth.

The aim of this cross-sectional study was to investigate congenital abnormalities of the retinal vasculature (CARVs) in patients with neurofibromatosis type I (NF-1). Forty-eight patients (96 eyes) with NF-1 diagnosed according to the National Institutes of Health (NIH) criteria and 48 healthy controls were included in this study. Standard fundus photographs were obtained for each subject to evaluate the presence and frequency of CARVs. The sensitivity, specificity, and diagnostic accuracy of different cut-off numbers of CARVs were compared with those of the NIH criteria. Forty-four (91.7%) patients in the NF-1 group demonstrated either supranumeraty optic disc vessels or triple branching of the retinal vasculature, and 22 patients (45.8%) demonstrated both findings. The frequencies of these two CARVs were significantly different between the two groups (p < 0.00001). A cut-off value of either one for supranumerary optic disc vessels or triple branching showed the highest accuracy along with sensitivity and specificity of 91.7% and 87.5%. CARVs such as supranumerary optic disc vessels or triple branching were frequently observed in NF-1 patients, and their occurrence was unrelated to the age of patients. Thus, these CARVs could be added as new ophthalmologic manifestions for NF-1 and may potentially enable early diagnosis of NF-1.

An inexpensive and compact frequency multi-mode diode laser enables a compact two-photon polarization entanglement source via the continuous wave broadband pumped spontaneous parametric down-conversion (SPDC) process. Entanglement degradation caused by polarization mode dispersion (PMD) is one of the critical issues in optical fiber-based polarization entanglement distribution. We theoretically and experimentally investigate how the initial entanglement is degraded when the two-photon polarization entangled state undergoes PMD. We report an effect of PMD unique to broadband pumped SPDC, equally applicable to pulsed pumping as well as cw broadband pumping, which is that the amount of the entanglement degradation is asymmetrical to the PMD introduced to each quantum channel. We believe that our results have important applications in long-distance distribution of polarization entanglement via optical fiber channels.

Hyperspectral imaging has proven significance in bio-imaging applications and it has the ability to capture up to several hundred images of different wavelengths offering relevant spectral signatures. To use hyperspectral imaging for in vivo monitoring and diagnosis of the internal body cavities, a snapshot hyperspectral video-endoscope is required. However, such reported systems provide only about 50 wavelengths. We have developed a four-dimensional snapshot hyperspectral video-endoscope with a spectral range of 400-1000 nm, which can detect 756 wavelengths for imaging, significantly more than such systems. Capturing the three-dimensional datacube sequentially gives the fourth dimension. All these are achieved through a flexible two-dimensional to one-dimensional fiber bundle. The potential of this custom designed and fabricated compact biomedical probe is demonstrated by imaging phantom tissue samples in reflectance and fluorescence imaging modalities. It is envisaged that this novel concept and developed probe will contribute significantly towards diagnostic in vivo biomedical imaging in the near future.

Quantum coherence and entanglement, which are essential resources for quantum information, are often degraded and lost due to decoherence. Here, we report a proof-of-principle experimental demonstration of high fidelity entanglement distribution over decoherence channels via qubit transduction. By unitarily switching the initial qubit encoding to another, which is insensitive to particular forms of decoherence, we have demonstrated that it is possible to avoid the effect of decoherence completely. In particular, we demonstrate high-fidelity distribution of photonic polarization entanglement over quantum channels with two types of decoherence, amplitude damping and polarization-mode dispersion, via qubit transduction between polarization qubits and dual-rail qubits. These results represent a significant breakthrough in quantum communication over decoherence channels as the protocol is input-state independent, requires no ancillary photons and symmetries, and has near-unity success probability.