In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction. While the genetic cause of high myopia itself is not well understood, a significant number of cases are secondary to hereditary malfunctions or degenerations of the retina. The mechanism by which this occurs remains yet unclear. Two female siblings, 4 y and 2 y, respectively, from a consanguineous Pakistani family were referred to our department for reduced VA and strabismus. Both girls were highly myopic and hence were further examined using standard clinical tests and electroretinography (ERG). The latter confirmed confounded electrical coupling of photoreceptors and bipolar cells. Further inquiry and testing confirmed a similar condition for the father including impaired night vision, reduced VA, photophobia, and an equally characteristic ERG. Findings in the mother were unremarkable. Subsequent genetic analysis of autosomal recessive and X-linked genes for congenital stationary night blindness (CSNB) revealed a novel homozygous splice site mutation in CACNA1F in the two girls transmitted from both the father and the mother. While in males the above clinical constellation is a frequent finding, this report, to the authors' knowledge, is the first demonstrating biallelic mutations at the CACNA1F locus in females.

Myopia goes far beyond the inconvenience it brings. It is a prevailing and vision-threatening eye disease, especially in Asia. Aberrantly expressed miR-708a and miR-148 are critical for accurate diagnosis, good prognosis, and precise response prediction of myopia. In this paper, we aim to examine the potential contributions of miR-708a, miR-148a, and PAX6 to high myopia (HM). First, aqueous samples were taken from 25 exclusively HM eyes and 25 exclusively cataract eyes. For next-generation sequencing and bioinformatics analysis, RNA from sample 30one was used. Twenty more samples were used for RT-qPCR. 341 miRNAs in total were found in HM eyes; 249 mature miRNAs and 17 new miRNAs showed differential expression. The expression of hsa-miR-127-3p, hsa-let-7i-5p, and hsa-miR-98-5p was identified using RT-qPCR. MiR-708a and miR-148, which may be linked to the development of myopia and serve as possible biomarkers, are notably highly expressed in atrial tissues of HM patients. Our findings may help deepen the understanding of the mechanisms behind the high expression of miR-708a and miR-148 in atrial tissues of patients with HM.

Purpose. To evaluate visual outcomes and identify prognostic factors after pars plana vitrectomy (PPV) surgery for traumatic endophthalmitis. Methods. Medical records of 121 consecutive patients (121 eyes) diagnosed with traumatic endophthalmitis that had undergone pars plana vitrectomy were retrospectively reviewed. Results. 121 patients, aged from 6 to 71 years, all underwent PPV surgery. 113 cases had improved best corrected visual acuity (BCVA) after surgery and 60% of them obtained BCVA better than fingers counting (FC). Good final visual prognosis was significantly associated with time between trauma and initial treatment less than 12 hrs (40% versus 98%; P < 0.001), time between trauma and PPV treatment less than 24 hrs (62% versus 98%; P < 0.001), laceration length less than 10 mm (63% versus 96%; P < 0.001), and presenting VA better than LP (42% versus 96%; P < 0.001), while gender, type of laceration, presence of IOFB or retinal detachment, and the use of silicone oil tamponade were not significant factors resulting in better BCVA. Bacteria were identified in 43.8% of specimens and most of the microorganisms were identified as nonvirulent ones. Conclusions. Pars plana vitrectomy surgery was preferred as a primary treatment option for traumatic endophthalmitis. A good final visual prognosis was significantly associated with timely treatment, prompt vitrectomy surgery, shorter length of laceration, and better presenting visual acuity.

To assess the long-term effects of nilvadipine on the progression of central visual field defect in retinitis pigmentosa (RP).

We evaluated amblyopia treatment, comparing training with glasses only and training with glasses and the Occlu-pad, a binocular open-type amblyopia training device. Forty-six children (4.8 ± 1.1 years) diagnosed with anisometropic amblyopia, all wearing complete correction glasses, were treated either with glasses only, or with glasses in combination with the Occlu-pad (training time: 2 days a week, 30 minutes per day). We compared visual acuity scores at 3 and 6 months after treatment had started, and examined the compliance rate for the Occlu-pad training. Three months as well as 6 months after amblyopia treatment started, the "Occlu-pad treatment group" showed significantly improved visual acuity, compared to the "Glasses treatment group" (at both 3 and 6 months: p < 0.0001). The compliance rate for using the Occlu-pad was 88.4 ± 18.7% after 3 months and 69.6 ± 19.5%, after 6 months. There was no significant correlation between the training time using the Occlu-pad and improvement in visual acuity (3 months: p = 0.97; 6 months: p = 0.55). The compliance rate for months 4 to 6 was significantly lower than that for months 1 to 3 (p = 0.003). Amblyopia treatment using the Occlu-pad device in combination with glasses led to a better effect than treatment with glasses alone.

To correlate the uveitic epiretinal membrane (ERM) features using spectral-domain optical coherence tomography (SD-OCT) with visual acuity (VA).

The purpose of this study was to evaluate the long-term effects of half-time photodynamic therapy (PDT) on the retinal sensitivity in eyes with chronic central serous chorioretinopathy (CSC). Twenty-two eyes of 22 patients with chronic CSC were studied. PDT was applied with full-dose verteporfin and half-time laser duration. The best-corrected visual acuity (BCVA) and retinal sensitivity in the central 2 and 10 degrees were evaluated at the baseline, and at 12 and 24 months after the half-time PDT. The retinal sensitivity was determined by Macular Integrity Assessment microperimetry (MAIA, Centervue, Padova, Italy). The results showed that the mean retinal sensitivities in the central 2 and 10 degrees were significantly improved at 12 months (25.6 ± 2.79 dB, median; 26.11 dB, 25.6 ± 2.25 dB, median; 25.65 dB, respectively; P < 0.001) and at 24 months (26.3 ± 2.62 dB, median; 27.38 dB, 26.6 ± 2.21 dB, median; 27.45 dB, respectively; P < 0.001) after the treatment compared to that at the baseline (19.2 ± 3.93 dB, median; 19.34 dB, 20.9 ± 2.92 dB, median; 20.9 dB, respectively). The BCVA was also significantly improved from 0.18 ± 0.19 median; 0.15 logarithm of the minimum angle of resolution (logMAR) units at the baseline to 0.07 ± 0.15 median; 0 logMAR units at 12 months (P < 0.001) and to 0.049 ± 0.16 median; -0.039 logMAR units at 24 months (P < 0.001). We conclude that half-time PDT results in a significant improvement of the mean central retinal sensitivity for at least 24 months in eyes with chronic CSC. Thus, half-time PDT is beneficial in resolving chronic CSC for a relatively long period.

To investigate the mechanisms underlying the occurrence of acute angle closure (AAC) and to further explore the sensitive indicators for clinical diagnosis of acute angle closure secondary to lens subluxation (AACSLS) through qualitative and quantitative analysis of ultrasound biomicroscopy (UBM) imaging features of eyes with AAC to provide a theoretical basis for the selection of treatment schemes.

Emotion recognition deficits emerge with the increasing age, in particular, a decline in the identification of sadness. However, little is known about the age-related changes of emotion processing in sensory, affective, and executive brain areas. This functional magnetic resonance imaging (fMRI) study investigated neural correlates of auditory processing of prosody across adult lifespan. Unattended detection of emotional prosody changes was assessed in 21 young (age range: 18-35 years), 19 middle-aged (age range: 36-55 years), and 15 older (age range: 56-75 years) adults. Pseudowords uttered with neutral prosody were standards in an oddball paradigm with angry, sad, happy, and gender deviants (total 20% deviants). Changes in emotional prosody and voice gender elicited bilateral superior temporal gyri (STG) responses reflecting automatic encoding of prosody. At the right STG, responses to sad deviants decreased linearly with age, whereas happy events exhibited a nonlinear relationship. In contrast to behavioral data, no age by sex interaction emerged on the neural networks. The aging decline of emotion processing of prosodic cues emerges already at an early automatic stage of information processing at the level of the auditory cortex. However, top-down modulation may lead to an additional perceptional bias, for example, towards positive stimuli, and may depend on context factors such as the listener's sex.

Intravitreal injections of antivascular endothelial growth factors have been considered a milestone in the treatment of neovascular age-related macular degeneration (nAMD). However, the increasing incidence of AMD and the burden of visits and injections overcharge both the patient and the healthcare systems. Real-world solutions depend on treatment protocols aimed at optimizing the number of clinical visits while guaranteeing good functional outcomes. We performed a retrospective analysis of 72 eyes from 63 naïve patients diagnosed with nAMD that underwent a fixed intravitreal protocol consisting of bimonthly injections after a three-month loading dose, with either Aflibercept or Ranibizumab (no predefined criteria for treatment selection). Best corrected visual acuity (BCVA) and optical coherence tomography were analyzed at baseline and during follow-up clinical visits (months 3, 6, 12, and 18). From the included participants, 42 followed a fixed regimen with Aflibercept and 30 with Ranibizumab. At the 12-month visit, there was not a statistically significant difference in the mean change of BCVA between the two groups (p=0.121); however, the mean difference in the central retinal thickness was significantly superior in the Aflibercept group (-142.2 versus -51.5, p=0.011). The described fixed regimen seems to be efficient in the treatment of nAMD in a clinical practice setting.

Purpose. To determine the effectiveness of autologous platelet lysate (APL) eye drops in patients with primary Sjögren syndrome (SS) dry eye, refractory to standard therapy, in comparison with patients treated with artificial tears. We focused on the effect of APL on cornea morphology with the in vivo confocal microscopy (IVCM). Methods. Patients were assigned to two groups: group A used autologous platelet lysate QID, and group B used preservative-free artificial tears QID, for 90 days. Ophthalmological assessments included ocular surface disease index (OSDI), best corrected visual acuity (BCVA), Schirmer test, fluorescein score, and breakup time (BUT). A subgroup of patients in group A underwent IVCM: corneal basal epithelium, subbasal nerves, Langerhans cells, anterior stroma activated keratocytes, and reflectivity were evaluated. Results. 60 eyes of 30 patients were enrolled; in group A (n = 20 patients) mean OSDI, fluorescein score, and BUT showed significant improvement compared with group B (n = 10 patients). The IVCM showed a significant increase in basal epithelium cells density and subbasal nerve plexus density and number and a decrease in Langerhans cells density (p < 0.05). Conclusion. APL was found effective in the treatment of SS dry eye. IVCM seems to be a useful tool to visualize cornea morphologic modifications.

The purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation. A family including one subject affected with cone dystrophy and four unaffected members without evidence of consanguinity underwent detailed ophthalmic evaluations. The ellipsoid and interdigitation zones on the spectral-domain optical coherence tomography images were disorganized in the proband. The proband had a reduced amplitude of cone and flicker full-field electroretinograms (ERGs). Focal macular ERGs and multifocal ERGs were severely reduced in the proband. A homozygous RP1L1 mutation (c.3628T>C, p.S1210P) was identified in the proband. Family members who were heterozygous for the p.S1210P mutation had normal visual acuity and normal results of clinical evaluations. To investigate other putative pathogenic variant(s), a next-generation sequencing (NGS) approach was applied to the proband. NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes. None of these variants cosegregated with the phenotype and were predicted to be benign reinforcing the putative pathogenicity of the RP1L1 homozygous mutation. The AO images showed a severe reduction of the cone density in the proband. Our findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy.

To explore the anatomical characteristics and occurrence mechanisms of acute primary angle closure (APAC) by comparing the quantitative data of UBM images of the APAC and fellow eyes.