Focal choroidal excavation associated with nonmelanocytic iris tumor

Purpose To describe a unique unilateral association between an iris stromal tumor and a macular focal choroidal excavation. Case Description A 40-year old patient presented with a small iris tumor associated with a unilateral macular lesion disclosed during a routine ophthalmologic examination. The patient was asymptomatic and visual function was not affected. After clinical and instrumental evaluation, a diagnosis of nonmelanocytic undefined stromal tumor of the iris associated with macular focal choroidal excavation was made. The size and shape of the two lesions remained stable during a 7-year follow-up and the patient did not develop other signs. Conclusion The concurrent presence of a stromal iris tumor associated with focal choroidal excavation has never been reported. Further reports of this association are required in order to understand its exact pathogenesis.

Neonatal Group B Streptococcal Meningitis: Predictors for Poor Neurologic Outcome at 18 Months

Aim To find early predictors for poor neurodevelopmental outcome after neonatal group B streptococcal meningitis. Methods We retrospectively analyzed clinical characteristics of 23 patients with neonatal group B streptococcal meningitis and their neurodevelopmental outcome at 18 months. Available group B Streptococcus strains were serotyped and their genomes characterized. Results We found several differences between patients with early- (n = 5) and late-onset (n = 18) disease. Nine children had neurologic abnormalities at 18 months and 4 had epilepsy, all of them after late-onset disease. Most important risk factors for poor outcome were impaired consciousness at admission, hemodynamic instability, seizures, or abnormal electroencephalogram during the acute illness and abnormal neurologic and ophthalmologic examination at the end of treatment, whereas abnormalities in laboratory and imaging studies were not predictive. Hypervirulent serotype III, multilocus sequence type 17 group B Streptococcus was the predominant pathogen. Conclusions Neurodevelopmental impairment after neonatal group B streptococcal meningitis is likelier in those with clinical and neurophysiological features indicating worse disease severity.

Wolfram-like syndrome – another face of a rare disease in children

Objectives The presence of two pathogenic variants in the WFS1 gene leads to the occurrence of a rare genetic disease in children – Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the WFS1 gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like). Case presentation A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result). The genetic analysis did not confirm WFS syndrome in the boy but identified a single likely pathogenic de novo variant in the WFS1 gene, which confirmed WFS-like syndrome. Conclusions Currently, the patient is under the care of an endocrinologist, diabetologist, ophthalmologist, audiologist, and also psychologist because of mood disorders.

Optical coherence tomography angiography analysis of aneurismal type 1 neovascularization in a cohort of white patients

Introduction: To evaluate the detection rate of aneurysmal type 1 neovascularization (AT1) in Caucasian patients using optical coherence tomography angiography (OCTA) and to describe OCTA characteristics of AT1 in a cohort of white patients. Methods: We conducted an observational retrospective study in 44 eyes of 43 patients with AT1. All patients underwent a complete ophthalmologic examination, including fundus imaging, indocyanine green angiography, optical coherence tomography, and OCTA. Branching vascular network (BVN) and polyp detection rates by OCTA were evaluated. Furthermore, we described BVN and polyp morphologies on en face OCTA and flow of polyps on B-scan OCTA. Results: En face OCTA revealed BVN in 84.09% of cases and polypoidal lesions in 86.36% of cases. B-scan OCTA showed BVN and polyps in 95.45% and 93.18% of the patients, respectively. “Trunk” BVNs (51.35%) and “ring” polyps (47.37%) were the most frequent morphologies observed in our cohort, and “patchy hyperflow” (80.49%) signal was the most common visualized in our patients. Regarding OCT parameters, CT under polyps was higher in patients with positive detection of polyps on B-scan OCTA. Conclusion: OCTA is a possible diagnosis tool in Caucasian patients with AT1. To the best of our knowledge, this is the largest study performed in Caucasian patients regarding OCTA diagnostic abilities and features.

Pachychoroid disease and its association with retinal vein occlusion: a case–control study

The development of a retinal vein occlusion (RVO) is multifactorial. This study investigates pachychoroid as a risk factor for RVO or as an entity sharing common pathophysiology with RVO. A database screening at the University Eye Hospital, Ludwig-Maximilian University Munich, Germany was performed for patients diagnosed with central or branch RVO (CRVO/BRVO). In every patient a complete ophthalmologic examination was performed, including posterior segment enhanced depth spectral domain optical coherence tomography (EDI-SD-OCT). The SD-OCT scans of respective partner eyes without history of RVO were compared to an age- and refraction-matched, randomly recruited normal control group. In total, 312 eyes of 312 patients were included in this study, with 162 eyes in the RVO and 150 eyes in the control group. A significantly higher subfoveal choroidal thickness (SFCT) was found in the RVO (310.3 ± 72.5 (94 to 583) µm) as compared to the control group (237.0 ± 99.0 (62 to 498); p < 0.00001). Moreover, the RVO group showed a significantly higher prevalence of a symptomatic pachychoroid (22 vs. 9 eyes; odds ratio: 2.46; 95 CI: 1.10 to 5.53; p = 0.029). Since pachychoroid disease represents a bilateral entity, it might be a risk factor for RVO, or share risk factors with RVO.

CHOROIDAL THICKNESS, MACULAR THICKNESS, RETINAL NERVE FIBER LAYER THICKNESS BY OCT IN NON-PREGNANT, PREGNANT AND POST MENOPAUSAL WOMEN

PURPOSE To evaluate the macular, retinal nerve fiber layer (RNFL) and choroidal thickness alterations by using spectral-domain optical coherence tomography (SD-OCT) in postmenopausal, pregnant and non-pregnant women. PATIENTS AND METHODS A comparative study included a total of 42 eyes (Right eye) of 42 healthy females in the period from march 2019 to September 2019 divided into 3 groups: a) Non pregnant women. b) Pregnant women.c) Postmenopausal women. Each subject underwent a comprehensive ophthalmologic examination. Following this detailed ophthalmologic examination, the Rs 3000 Nidek Japan OCT device was used for the assessment choroidal, macular and RNFL Thickness. RESULTS The mean age of non-pregnant females was 29.64 ±3.13, mean age of pregnant females was 28.93 ±3.89 and of postmenopausal women was 53.86 ± 1.75. There was no significant difference in all macular quadrants in the 3 study groups. Choroidal thickness was statistically significant thicker in healthy pregnant females (333.36 ±44.42) than in healthy non pregnant (326.93±31.50) and significantly thinner in healthy post-menopausal women (282.64±28.04) than healthy non pregnant females. There was no significant difference in RNFL thickness between the 3 study groups. CONCLUSION Oct has evolved over the past decade as one of the most important ancillary tests in ophthalmic practice. Pregnancy hormones may lead to an increase in fluid volume in many tissues of the body. There was no statistically significant difference in macular thickness and RNFL thickness between the 3 study groups. Choroidal thickness was statistically significant thicker in healthy pregnant than in healthy non pregnant and significant thinner in healthy post-menopausal women than healthy non pregnant.

Characteristics of polypoidal choroidal vasculopathy in the Malaysian population

Introduction: Polypoidal choroidal vasculopathy (PCV) is a distinct clinical entity, characterized by focal hyperfluorescence in the early phase of indocyanine green angiography (ICGA), with or without its associated branching vascular network (BVN).Purpose: To report the angiographic characteristics of PCV on ICGA in presumed PCV patients.Study design: Descriptive cross-sectional study.Materials and methods: This study involved 36 suspected PCV patients who attended the Ophthalmology Clinic, Universiti Kebangsaan Malaysia Medical Centre from June 1, 2012 to May 31, 2013. All patients underwent complete ophthalmologic examination including colour fundus photography, ICGA, and fundus fluorescein angiography. ICGA images of confirmed PCV patients were analysed.Results: Twenty-five out of 36 eyes (69.4%) were diagnosed to have PCV based on ICGA. Mean age of confirmed PCV patients was 66.4 ± 8.42 years, with predominance of males (n = 17) and Chinese ethnicity (n = 19). Best-corrected visual acuity (BCVA) was between 6/6 and 6/18 in 64%. All 25 patients had unilateral disease. Average size of PCV lesions was 1461.4 ± 864.4 μm. The lesions were mostly concentrated in the extrafoveal region (n = 15, 60%). Lesion formation was cluster in 56% (n = 14), single in 32% (n = 8), string in 4% (n = 1), and combination in 8% (n = 2). The majority involved a single discrete area. Polyp pulsation was detected in six eyes, while seven eyes revealed nodular hyperfluorescence when viewed stereoscopically. BVN was evident in 56% (n = 14). Fifteen eyes demonstrated the hypofluorescent halo, while no hyperfluorescent ring was seen in this study population. Late geographical hyperfluorescence (LGH) was noted in seven eyes (28%). There was no significant association between the morphological characteristics of PCV, i.e., size of lesion, location, formation, discrete area involved, and LGH with BCVA.Conclusion: The demographic, clinical, and angiographic features observed in this study were in agreement with other previously published Asian studies. However, we found no association between the morphological characteristics of PCV with BCVA.

Diagnostic Evaluation of Visual Snow

Introduction: To determine which patients with visual snow (VS) and VS syndrome (VSS) require standard ophthalmologic testing including automated visual field and which patients require further testing such as macular spectral domain optical coherence tomography (SD-OCT), electrophysiology, and neuroimaging.Materials and Methods: We retrospectively reviewed 52 consecutive patients at three institutions with VS and VSS including the University of Alabama, Callahan Eye Hospital, the University of Missouri-Kansas City School of Medicine, and the Little Rock Eye Clinic from the years 2015 to 2021. We collected historical information, examination findings, ophthalmic testing, electrophysiology, and neuroimaging.Results: Of the 52 patients with VS and VSS, eight of the 52 cases met the clinical criteria for VSS. The ages ranged from 7 to 79 years, with a mean age of 25 years (SD = 14.0). There were 22 males and 30 females. Color vision was tested in 51 cases and was normal in 47 cases (92%). A funduscopic exam was performed in all 52 cases and was normal in 46 cases (88%). The macular SD-OCT was normal in all of the 19 cases that it was performed (100%). A Humphrey visual field was performed in 50 cases and was normal in 43 (86%). A visually evoked potential (VEP) was normal in 18 of the 19 cases where it was obtained (95%). The full-field electroretinography (ffERG) was obtained in 28 cases and was normal in 25 (89%). The multifocal electroretinography (mfERG) was normal in 11 of 12 cases (92%). Only four patients accounted for all of the abnormal electrophysiological tests. In the 37 cases that had an MRI, 29 were normal (78%). Only one patient revealed a lesion in the visual pathway (right optic nerve enhancement in an optic neuritis patient).Conclusions: Patients with VS and VSS, if typical in presentation and with normal testing, do not require a workup beyond a thorough history, neuro-ophthalmologic examination, and automated perimetry. If this testing is abnormal, then ancillary testing is required.

Outcomes of the flanged intrascleral haptic fixation with double-needle technique in patients with Marfan syndrome

Purpose: To investigate the clinical outcomes and complications associated with the flanged intrascleral haptic fixation with double-needle technique (a.k.a. the Yamane technique/FIHFT) in patients with Marfan syndrome (MFS) with subluxated or dislocated lenses. Methods: Eighteen eyes of 11 patients with MFS with subluxated or dislocated lenses who had undergone intraocular lens implantation using the FIHFT from March 2019 to October 2020 were evaluated. All patient data were retrospectively collected from medical records, including a complete ophthalmologic examination at baseline and follow-up examinations of uncorrected visual acuity (UCVA, logMAR), best-corrected visual acuity (BCVA, logMAR), intraocular pressure (IOP), and slit-lamp examination. Results: The median follow-up period was 6 ± 3 (range, 3–12) months. The average patient age at the time of surgery was 13 ± 9 (range, 4–34) years. The mean preoperative BCVA was 0.49 ± 0.20 logMAR (Snellen equivalent visual acuity, 20/60), while the mean postoperative BCVA at the end of follow-up was 0.21 ± 0.14 logMAR (20/30), indicating an improvement of 0.28 ± 0.20 logMAR (20/40) postoperatively ( p < 0.001). Postoperative iris capture occurred in six eyes (38.9%). No cases of hypotony, IOP elevation, or vitreous hemorrhage were noted, and no patients developed intraocular lens dislocation, retinal detachment, or endophthalmitis. Conclusions: To our knowledge, the present study is the first to report outcomes of the FIHFT in patients with MFS. Our findings suggested that scleral lens fixation is safe and effective for improving visual acuity in patients with MFS who have subluxated or dislocated lenses.

Static and dynamic pupillary characteristics in multiple sclerosis

Purpose: To examine the static and dynamic pupillary functions with automated pupillography in multiple sclerosis (MS) patients with preserved visual acuity. Methods: Forty-seven MS patients with preserved visual acuity were included in the study group and 43 healthy volunteers in the control group. The visual evoked potential of the patients was obtained. After routine ophthalmologic examination contrast sensitivity and the retinal nerve fiber layer (RNFL) thickness were measured. Finally scotopic, mesopic, and photopic pupillographies followed by dynamic pupillography were undertaken, and the pupillary dilatation speed was calculated. Results: The contrast sensitivity and RNFL thickness of the MS group were significantly lower than those of the control group ( p < 0.05; for both). In the MS and control groups, the scotopic pupil diameters were 5.48 ± 1.03 and 5.28 ± 0.78 mm, mesopic pupil diameters were 4.82 ± 0.83 and 4.48 ± 0.70 mm, and photopic pupil diameters were 3.84 ± 0.79 and 3.42 ± 0.49 mm, respectively ( p = 0.315, p = 0.044, and p = 0.004, respectively). In dynamic pupillography, the pupil in the MS group was more dilated than control group at all time sections examined except the sixth second ( p < 0.05; for all). Although the mean pupillary dilation speed in the first second was higher in the MS group ( p = 0.044), there was no significant difference between the groups for the other time intervals examined ( p > 0.05; for all). There was no correlation between pupillary parameters and P100-wave latency, RNFL thickness, or contrast sensitivity ( p > 0.05; for all). Conclusions: Static and dynamic pupillary functions may be affected in MS patients with preserved visual acuity. Although scotopic pupillary functions are preserved, mesopic, and photopic pupil functions are weakened.