Idit Maharshak - research

All three patients with WDR45 X-linked optic atrophy exhibited elevated iron levels in their tears compared to healthy controls.

No differences from the control group were detected for other trace elements.

Poor anatomical outcome occurred in 6.3% (n = 4), with 2 eyes requiring surgery.

Mean spherical equivalent was -5.04 (±5.13) D.

Corneal curvature and lens thickness were significantly higher in the study group (p < .001).

Central macular thickness was greater in ROP eyes (311.97 μm vs 252.57 μm; p < .001).

For context, the ResNet model, fine-tuned for ophthalmic imaging, reached near-perfect accuracy (99.5%, Kappa = 0.99), while two human ophthalmologists achieved accuracies of 96.0% (Kappa ≈ 0.92).

Intermediate uveitis has been reported to be the most common type of uveitis in association with MS.

The mechanism associating MS and uveitis is not clear, but previous data suggest a genetic predisposition may play a role.

This observation may be attributed to early immunomodulatory treatment given to those patients to treat uveitis.

In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy.

Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.

Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.

Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus).

They are considered congenital, but not all are diagnosed at birth.

They are the most common orbital tumors in children.

In addition, many deep orbital dermoid cysts present with chronic inflammation resulting from lipid leakage from the cysts.

They pose a diagnostic and therapeutic challenge, require radiological imaging for planning the surgical approach and may be difficult to remove.

Final visual acuities were 0.45 ± 0.45 and 0.8 ± 0.73 (P = 0.09), and final central macular thicknesses were 288.26 ± 55.38 and 313.12 ± 107.36 (P = 0.38) in the study and control groups, respectively.

The detection power of standard GWAS methods is restricted by cohort size and false discovery.

To overcome these limitations, we considered gene-centric approaches for the unified group of IIH and PAP patients.

Seeking shared genes by GWAS for IIH and PAP identified VLDLR and SHANK2 genes in the UKB and FinnGen cohorts, respectively.

Among them, MAPK15, DNAH5, and SLC28A3 are involved in ciliary microtubule dysregulation.

Previous genome-wide association studies (GWAS) of common variants failed to find significant associations.

The results were compared to the FinnGen data.

Seeking shared genes by GWAS for IIH and PAP identified VLDLR and SHANK2 genes in the UKB and FinnGen cohorts, respectively.

Among them, MAPK15, DNAH5, and SLC28A3 are involved in ciliary microtubule dysregulation.

On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6% (SD 0.19), and an undecided response in 6.15% (SD 4.13).

Twenty-two neuro-ophthalmologists participated in the creation of a consensus statement which included 24 types of abnormalities with specific definitions.

On average, in the repeated survey, there were 5.9 unique descriptions for each of the visual fields (SD 1.79), a description of only the location in 0.004% (SD 0.01), and an undecided response in 3.07% (SD 2.11%).

Relative to the first survey, there was a significant improvement in the use of specific and decisive terminology.

Research is currently focused on developing treatments to reduce the risk of developing or inhibiting disease progression.

Therefore, there is a need to identify diagnostic tools for the initial stages of the disease.

The retina is a component of the central nervous system.

Changes in the retina can reflect the cerebral pathological process in Alzheimer's disease.

Of the 31 suitable end-stage renal disease patients treated with hemodialysis who provided consent to participate, seven were unable to complete all evaluations, leaving 24 patients for analysis in the final study group.

Their mean age was 66.67±14.3 years (range: 35-88), and 62.5% were males.

Individual mean retinal layer thickness showed no significant change, including the retinal nerve fiber layer (40.9±6.8 µm to 40.1±5.2 µm, p=.412), the ganglion cell and the inner plexiform layer (68.66±8 µm to 69.03±7.6 µm, p=.639), and the photoreceptor layer (50.26±2.8 µm to 50.32±3.1 µm, p=.869).

The two groups were similar in the pre-operative amount of esotropia for distance and near.

On last follow-up examination, the amount of mean deviation was 1.9 PD esotropia (8 PD exotropia to 9 PD esotropia) in the success group and 11.2 PD esotropia (22.5 PD exotropia to 35 PD esotropia) in the failure group.

In the failure group, 75.0% of patients were under-corrected (esotropia of ≥ 10 PD) on last follow-up examination.

The mean patients' age at baseline was 63.0 ± 10.0 years.

Patients underwent 3.9 ± 2.9 anti-VEGF injections for a mean of 9.1 ± 4.8 months.

BCVA gain correlated with IZ/EZ defect size reduction (r = 0.41, p = 0.02) but not with improvement in CMT (r = 0.28, p = 0.121).

Of 22 bariatric surgery patients, 15 underwent laparoscopic sleeve gastrectomy (LSG) and 7 laparoscopic mini gastric bypass (MGB).

All were followed up for over 1 year after surgery.

Average BMI decreased from 41.9 ± 7.3 to 25.5 ± 5.7 kg/m 2 at 1-year follow-up (p < 0.001).

Central corneal thickness and retinal nerve fiber layer thickness were also significantly decreased (p = 0.038) and (p = 0.018), respectively.

Another important issue to investigate is the cortical interactions arising between the flicker stimuli of both eyes.

Experiments were designed to evaluate the CFF threshold through a psychophysical test, based on a discrimination task with a stimulus duration of 1 s, based on a temporal alternative forced-choice paradigm.

Subjects were requested to discriminate between a target stimulus (a flickering light at various frequencies) and a flickering light at a frequency of 120 Hz, which is significantly higher than the CFF in humans; therefore, it is perceived as constant.

The CFF was significantly (p = 0.011) higher (5.2%) under binocular compared with monocular viewing conditions.

CASE REPORT: An 81-year-old man treated with dronedarone for atrial fibrillation after amiodarone had caused tremor developed sequential permanent vision loss in both eyes.

Intracranial hypertension may be idiopathic or secondary to multiple etiologies.

Repeat brain MRIs were normal in both.

The clinical presentation of our patients expands the PTEN -related phenotypes.

The group included 100 neonates (194 eyes) with a mean birth weight +/- SD of 833.9 +/- 250.3 g and a mean gestational age +/- SD of 26 +/- 1.9 weeks.

Each eye received a mean +/- SD of 1,740 +/- 990 laser applications, and 21% of eyes received an additional 1 to 2 rows posterior to the ridge.

Neonates treated after December 2003 (cutoff date of the Early Treatment of Retinopathy of Prematurity study) underwent a significantly greater number of laser applications (mean +/- SD, 2,286 +/- 1,087) than did neonates treated earlier.

Refractive data were available for 134 eyes: 55.2% had myopia of -5 diopters (31.3%) or greater (23.9%).