Visual Field Defects Research Articles

Cortical and subcortical intraoperative-monitoring of the visual pathway under general anesthesia in epilepsy surgery

ObjectiveThe purpose of this study was to evaluate the applicability of visual evoked potentials (VEP) for intraoperative visual pathway monitoring in epilepsy surgery of the posterior hemispheric quadrant (PHQ) and to correlate it with post-operative visual field status. MethodsVEP monitoring was performed in 16 patients (12 females, 7 children). Flash-induced VEP were recorded with strip electrodes from the banks of the calcarine cortex. Latency and amplitude of the first component of VEP (V1-lat, V1-amp) were monitored. Evaluation of the visual field was performed pre- and post-operatively in all patients. ResultsAll procedures were successfully completed without adverse events.In 10 patients the strip covered both the inferior and superior calcarine banks, while only one bank was sampled in 6 cases (inferior in 4, superior in 2). Considering one of the two calcarine banks, at the end of the resection VEP had disappeared in 4 patients, whereas a decrease >33.3% in 4 and <20% of V1-amp was recorded in 5 and in 4 cases respectively. The percentage of V1-amp reduction was significantly higher for the patients who experienced a post-operative visual field reduction (p < 0.001). Post-operative visual field deficits were found in patients presenting a reduction >33.3% of V1-amp. ConclusionsVEP monitoring is possible and safe in epilepsy surgery under general anesthesia. SignificanceIntraoperative recording of VEP from the banks of the calcarine cortex allows monitoring the integrity of post-geniculate visual pathways during PHQ resections for epilepsy and it is pivotal to prevent disabling visual field defects, including hemianopia and inferior quadrantanopia.

The Beijing angle closure progression study: design and methodology.

The purpose of this study is to summarize the design and methodology of a large-scale trial in northern China, the Beijing Angle Closure Progression Study (BAPS). This trial is designed to explore the 5-year incidence of primary angle-closure suspect (PACS) progressing to primary angle-closure (PAC) or primary angle-closure glaucoma (PACG) and to determine the possible risk factors of disease progression. The BAPS is a clinic-based, multicenter, noninterventional trial conducted on a sample of urban Chinese adults. Consecutive eligible patients who meet PACS diagnostic criteria will be recruited from eight participating centers, with the trial commencing on August 4, 2022. The target sample size is set at 825 subjects, with follow up planned for a minimum period of 5 years. Baseline examination will include presenting visual acuity, best corrected visual acuity, intraocular pressure (IOP), undilated slit-lamp biomicroscopy, stereoscopic evaluation of the optic disc, visual field test, optical coherence tomography evaluation of retinal nerve fiber layer, ultrasound biomicroscopy and IOLMaster. Questionnaires will also be used to collect detailed personal history. Patients are scheduled to visit the glaucoma clinic every 12 months and may visit the emergency room in case of acute attack of angle closure. Study endpoints include acute PAC episodes, elevated IOP, peripheral anterior synechiae, glaucomatous visual field defect, or glaucomatous abnormality of optic nerve. The BAPS will provide data on the 5-year incidence of PACS progressing to PAC or PACG and determine the risk factors for disease progression. This study will also help redefine high-risk patients with PACS.

Multiple Evanescent White Dot Syndrome following COVID-19 Vaccination: Two Case Reports

Purpose: We present two cases of multiple evanescent white dot syndrome (MEWDS) following COVID-19 vaccination.Case summary: We present two cases of visual field defects following BNT162b2 (Pfizer-BioNTech, Kronach, Germany) COVID-19 vaccination. A 14-year-old male experienced reduced visual acuity in the temporal field of his left eye after his second dose. Similarly, a 38-year-old woman experienced decreased visual acuity in her right eye after her first dose. Notably, neither patient had pre-existing medical conditions or exhibited COVID-19 symptoms following vaccination. Funduscopic examination revealed multifocal peripapillary hyperreflective lesions in both cases. Visual field defects and hyperreflective lesions spontaneously resolved within 6 weeks, with normal visual acuity and fundus findings at the 7-month follow-up.Conclusions: The recent COVID-19 pandemic has led to a significant increase in vaccination rates. Notably, MEWDS demonstrated a significant association with previous vaccines, including influenza and hepatitis, and the cases describe herein also suggest a potential association between BNT162b2 vaccination and MEWDS.

Ocular findings in Jansen metaphyseal chondrodysplasia.

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans. Five of 6 patients had good visual acuity. All patients had widely spaced eyes; 5/6 had downslanted palpebral fissures. One patient had proptosis, and another had bilateral ptosis. Two patients had incomplete closure of the eyelids (lagophthalmos), one had a history of progressive right facial nerve palsy with profuse epiphora, while the second had advanced optic nerve atrophy with corresponding retinal nerve fiber layer (RNFL) thinning on OCT and significant bilateral optic canal narrowing on CT scan. Additionally, this patient also had central visual field defects and abnormal color vision. A third patient had normal visual acuity, subtle temporal pallor of the optic nerve head, normal average RNFL, but decreased temporal RNFL and retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4/6 patients indicating a subclinical optic nerve atrophic process. None of the patients had glaucoma or high myopia. These data represent the first comprehensive report of ophthalmic findings in JMC. Patients with JMC have significant eye findings associated with optic canal narrowing due to extensive skull base dysplastic bone overgrowth that appear to be more prevalent and pronounced with age. Progressive optic neuropathy from optic canal narrowing may be a feature of JMC, and OCT GCA can serve as a useful biomarker for progression in the setting of optic canal narrowing. We suggest that patients with JMC should undergo regular ophthalmic examination including color vision, OCT, visual field testing, orbital, and craniofacial imaging.

Visual Field Improvement in Non-Arteritic Posterior Ischemic Optic Neuropathy in a Patient Treated with Intravenous Steroids

A 50-year-old man presented with a nasal visual field defect in the left eye. His medical history was unremarkable. On ophthalmic examination, his best-corrected visual acuity (BCVA) was 1.2 in both eyes. Fundoscopy revealed no abnormalities in either eye. Goldmann visual field test showed a nasal visual field defect in the left eye. The patient was diagnosed with NPION of the left eye and was followed up without treatment. However, four days after the initial visit, his BCVA decreased to counting finger in the left eye. Goldmann visual field test showed a complete nasal visual field defect with central absolute scotoma. Following admission, the patient was treated for 3 days with intravenous methylprednisolone pulse therapy. Three months later, his BCVA was improved to 0.8 in the left eye, but central relative scotoma was remained. Six months later, his BCVA was maintained at 0.8, and central relative scotoma was disappeared. However, the optic disc looked diffusely pale in the left eye. This case highlights that steroid therapy is an option for severe cases with posterior ischemic optic neuropathy.

Impact of Social Vulnerability Index on the Development of Severe Visual Impairment or Blindness From Glaucoma

PurposeTo evaluate whether geocoded social risk factor data predict the development of severe visual impairment or blindness due to glaucoma during follow-up using a large electronic health record (EHR) database. DesignCohort study. MethodsPatients diagnosed with open-angle glaucoma (OAG) at a tertiary care institution. All eyes had glaucomatous visual field defects at baseline. Sociodemographic and ocular data were extracted from EHR, including age, gender, self-reported race and ethnicity, insurance status, OAG type, prior glaucoma laser or surgery, baseline disease severity using Hodapp-Anderson-Parrish criteria, mean intraocular pressure (IOP) during follow-up, and central corneal thickness. Social vulnerability index (SVIndex) data at the census tract level were obtained using geocoded patient residences. Mixed-effects Cox proportional hazard models were completed to assess for the development of severe visual impairment or blindness during follow-up, defined as BCVA ≤20/200 at the last two clinic visits or standard automated perimetry (SAP) mean deviation (MD) ≤-22dB confirmed on two tests. ResultsA total of 4,046 eyes from 2,826 patients met inclusion criteria and were followed for an average of 4.3±2.2 years. Severe visual impairment or blindness developed in 79 eyes (2.0%) from 76 patients (2.7%) after an average of 3.4±1.8 years, leading to an incidence rate of severe visual impairment or blindness of 0.5% per year. Older age (adjusted hazards ratio (HR) 1.36 per decade, p=0.007), residence in areas with higher SVIndex (HR 1.56 per 25% increase, p<0.001), higher IOP during follow-up (HR 3.01 per 5 mmHg increase, p<0.001), and moderate or severe glaucoma at baseline (HR 7.31 and 26.87, p<0.001) were risk factors for developing severe visual impairment or blindness. Concordance index of the model was 0.87. Socioeconomic, minority status/language, and housing type/transportation SVIndex themes were key contributors to developing severe visual impairment or blindness. ConclusionsRisk factors for developing glaucoma-related severe visual impairment or blindness included older age, elevated IOP during follow-up, moderate or severe disease at baseline, and residence in areas associated with greater social vulnerability. In addition to ocular risk factors, geocoded EHR data regarding social risk factors could help identify patients at high risk of developing glaucoma-related visual impairment.

Association between Skin Carotenoid Levels and Cognitive Impairment Screened by Mini-Cog in Patients with Glaucoma.

Carotenoids, having strong antioxidant properties, have been associated with neurodegenerative conditions like dementia and glaucoma, characterized by neuronal loss leading to cognitive and visual dysfunction. Therefore, carotenoids have attracted attention as factors predictive of the onset and progression of these neurodegenerative diseases. However, the impact of carotenoids on cognitive impairment and glaucomatous visual field defects remains unexplored. We conducted a retrospective, observational clinical study to investigate the association between skin carotenoid (SC) levels and cognitive impairment, as screened by the Mini-Cog test, in glaucoma patients. The study included 406 participants and 812 eyes were examined (average age: 69.7 ± 11.4 years; 228 men, 178 women) with various types of glaucoma: primary open angle (57.6%), exfoliation (18.6%), and other types (23.8%). SC levels were estimated via pressure-mediated reflection spectroscopy. Mixed-effects regression models were utilized to examine the relationship between SC levels, visual field defects, and Mini-Cog results. Of the participants, 28 (6.9%) tested positive on the Mini-Cog, suggesting cognitive impairment. The average SC level in the Mini-Cog positive group was significantly lower than in the negative group (269.5 ± 86.4 A.U. vs. 329.2 ± 120.4 A.U., respectively; p = 0.01). Additionally, the visual field mean deviation (MD) in the Mini-Cog positive group was notably worse than that in the negative group (-19.64 ± 9.07 dB vs. -12.46 ± 9.28 dB, respectively; p < 0.0001). The mixed-effects regression analysis revealed a significant association between Mini-Cog positivity and lower SC levels (p = 0.0006), although SC levels did not significantly correlate with MD (p = 0.3). Our findings suggest that cognitive impairment in glaucoma patients is associated with lower SC levels, underscoring the potential benefits of maintaining carotenoid levels to slow cognitive function decline. The protective role of carotenoids in glaucoma merits further investigation.

Vision-related quality of life after unilateral occipital stroke.

Stroke damage to the primary visual cortex induces large, homonymous visual field defects that impair daily living. Here, we asked if vision-related quality of life (VR-QoL) is impacted by time since stroke. We conducted a retrospective meta-analysis of 95 occipital stroke patients (female/male=26/69, 27-78 years old, 0.5-373.5 months poststroke) in whom VR-QoL was estimated using the National Eye Institute Visual Functioning Questionnaire (NEI-VFQ) and its 10-item neuro-ophthalmic supplement (Neuro10). Visual deficit severity was represented by the perimetric mean deviation (PMD) calculated from 24-2 Humphrey visual fields. Data were compared with published cohorts of visually intact controls. The relationship between VR-QoL and time poststroke was assessed across participants, adjusting for deficit severity and age with a multiple linear regression analysis. Occipital stroke patients had significantly lower NEI-VFQ and Neuro10 composite scores than controls. All subscale scores describing specific aspects of visual ability and functioning were impaired except for ocular pain and general health, which did not differ significantly from controls. Surprisingly, visual deficit severity was not correlated with either composite score, both of which increased with time poststroke, even when adjusting for PMD and age. VR-QoL appears to improve with time postoccipital stroke, irrespective of visual deficit size or patient age at insult. This may reflect the natural development of compensatory strategies and lifestyle adjustments. Thus, future studies examining the impact of rehabilitation on daily living in this patient population should consider the possibility that their VR-QoL may change gradually over time, even without therapeutic intervention.

Visual disorders in children with shunted hydrocephalus.

The introduction of shunt operations in neurosurgical practice gave a chance for life to these patients and significantly improved its quality. Along with its positive effect, surgical treatment is associated with a number of complications that, together with hydrocephalus itself, affect the subsequent development of shunted patients in the short and long term. In the long term, problems observed in shunted patients are mental retardation, cerebral palsy (CP), epilepsy, hearing and vision disorders. Visual disturbances are common in children with shunted hydrocephalus. These include reduced visual acuity, eye movement disorders, refractive anomalies, visual field defects, reduced color vision and strabismus, optic atrophy. The mechanism of visual disturbances is associated with damage to the oculomotor pathways, optic nerves and optic radiation, dilatation of the lateral ventricles, and damage to the periventricular white matter. Age at onset of hydrocephalus and ventricular dimension are important in the development of visual disturbances and placement of a shunting system can improve visual function. At the same time ophthalmic disturbances may be the first and only sign of shunt dysfunction and rapid normalization of elevated ICP preserves vision. Visual disturbances in patients with shunted hydrocephalus correlate with higher incidence of CP and epilepsy. They determine the children’s social integration and quality of life.

Circulating Small Extracellular Vesicles Involved in Systemic Regulation Respond to RGC Degeneration in Glaucoma.

Glaucoma is a leading cause of irreversible blindness worldwide and is characterized by progressive retinal ganglion cell (RGC) degeneration and vision loss. Since irreversible neurodegeneration occurs before diagnosable, early diagnosis and effective neuroprotection are critical for glaucoma management. Small extracellular vesicles (sEVs) are demonstrated to be potential novel biomarkers and therapeutics for a variety of diseases. In this study, it is found that intravitreal injection of circulating plasma-derived sEVs (PDEV) from glaucoma patients ameliorated retinal degeneration in chronic ocular hypertension (COH) mice. Moreover, it is found that PDEV-miR-29s are significantly upregulated in glaucoma patients and are associated with visual field defects in progressed glaucoma. Subsequently, in vivo and in vitro experiments are conducted to investigate the possible function of miR-29s in RGC pathophysiology. It is showed that the overexpression of miR-29b-3p effectively prevents RGC degeneration in COH mice and promotes the neuronal differentiation of human induced pluripotent stem cells (hiPSCs). Interestingly, engineered sEVs with sufficient miR-29b-3p delivery exhibit more effective RGC protection and neuronal differentiation efficiency. Thus, elevated PDEV-miR-29s may imply systemic regulation to prevent RGC degeneration in glaucoma patients. This study provides new insights into PDEV-based glaucoma diagnosis and therapeutic strategies for neurodegenerative diseases.

A Case of Pituitary Rathke’s Cleft Cyst Associated with Decreased Visual Acuity after Cataract Surgery

Purpose: To report a case of suprasellar Rathke's cleft cyst accompanying visual field defect found in a patient complaining of decreased visual acuity after cataract surgery.Case Summary: A 62-year-old male patient who showed a best-corrected visual acuity (BCVA) of 0.6 after left eye cataract surgery visited our hospital two months after surgery with decreased vision. He showed a best corrected visual acuity of 0.2, did not have relative afferent pupillary defect, and there were no specific findings on fundus examination. In the full field perimetry test, partial visual field loss in superior temporal quadrants were found in both eyes, being more prominent in left eye. In ganglion cell layer measurements using optical coherence tomography, a symmetric thinning in the thickness of the nasal ganglion cell layer was observed in both eyes, which was consistent with the visual field test. It was discovered that a liquid solid mass with a diameter of 21 mm in the upper part of the pituitary gland was compressing the optic chiasm in orbit magnetic resonance imaging. The patient was then referred to neurosurgery for pituitary surgery using transsphenoidal approach and diagnosed with Rathke's cleft cyst on histopathologic examination. Three months after surgery, the BCVA has increased to 0.5 and the visual field test showed no scotoma.Conclusions: We report a case that Rathke's cleft cyst above the sella turcica inducing visual disturbances, emphasizing the importance of early detection and treatment through neuroophthalmological evaluation in a patient presenting with unexplained visual impairment.

The FreiBurger: a new optotype for P300-based acuity estimation.

Accurate objective assessment of visual acuity is crucial, particularly in cases of suspected malingering, or when the patient's inability to cooperate makes standard psychophysical acuity tests unreliable. The P300 component of the event-related potentials offers a potential solution and even allows for the use of standard optotypes like the Landolt C. However, low-vision patients with large eccentric visual field defects often struggle to locate the Landolt C gap quickly enough for a P300 to be reliably produced. Addressing this challenge, we introduce a novel optotype (the "FreiBurger") with a critical detail that extends through the optotype's center. Two experiments, with 16 and 12 participants, respectively, were conducted. In the first, psychophysical acuity estimates were obtained with both the FreiBurger and the Landolt C. In the second, we tested the performance of the FreiBurger, relative to the Landolt C, in eliciting a P300 with undegraded vision, simulated low vision, and in a simulated combination of low vision and visual field constriction. Comparable psychophysical acuity values (average difference 0.03 logMAR) were obtained for both optotypes. In the P300 recordings, both optotypes produced similar P300 responses under conditions of undegraded vision and low vision. However, with the combination of low vision and constricted visual field, the P300 could only be reliably obtained with the FreiBurger, while the amplitude was drastically reduced with the Landolt C (9.1µV vs. 2.2µV; p < 0.0005). The new optotype extends the applicability of P300-based acuity estimation to the frequently encountered combination of low vision and constricted visual field, where Landolt C optotypes fail. Although impairments were simulated in the present study, we assume that the advantages of the new optotype will also manifest in patients with such impairments. We furthermore expect the advantages to apply to time-sensitive psychophysical examinations as well.

Peripapillary Microvascular and Structural Parameters in Atrophic Nonarteritic Anterior Ischemic Optic Neuropathy, Unaffected Fellow Eyes and Controls in an Indian Population

ABSTRACT Nonarteritic ischemic optic neuropathy (NAION) is believed to be an ischemic insult to the optic nerve head and is one of the most common acute optic neuropathies of adulthood. Prevention of NAION in the fellow eye has not yet been accomplished. Optical coherence tomography angiography (OCTA) is a new and emerging non-invasive technology that provides microvascular information that complements the structural data. This prospective study is aimed to fill the lacunae in data that is available in the Indian population. We included 36 patients with NAION, their 36 fellow eyes and 37 healthy controls. The peripapillary perfusion index, peripapillary flux, peripapillary retinal nerve fibre layer (RNFL) thickness values and disc volumes of eyes were evaluated. The NAION eyes had lower peripapillary perfusion index, flux and RNFL thickness values in all sectors compared with both the fellow and the healthy control eyes (p = < .05). A statistically significant difference was found in disc volume between control eyes and fellow eyes, which included eyes with disc at risk configuration as well as normal disc configuration. Eyes with disc at risk configuration had a numerically lower disc volume than eyes with normal disc configuration. Fellow eyes overall had numerically lower perfusion index, higher RNFL thickness, and similar flux which was statistically non-significant compared with the healthy eyes. Correlation between the localization of visual field defects and the quadrants showing impairments of perfusion index and peripapillary RNFL were also assessed. These findings may indicate the potential vascular risk factors for the development of NAION in fellow eyes.

Pie in the sky appearance – Unraveling rheumatic heart disease in a pediatric stroke

We present a very interesting case of pediatric stroke whereby the patient presented with a visual field defect with perimetry showing a “Pie in the Sky” appearance and ultimately diagnosed with rheumatic heart disease on stroke workup.

The anterior sylvian point as a reliable landmark for the anterior temporal lobectomy in mesial temporal lobe epilepsy: technical note, case series, and cadaveric dissection.

Mesial temporal lobe epilepsy (MTLE) is one of the most prevalent forms of focal epilepsy in surgical series, particularly among adults. Over the decades, different surgical strategies have been developed to address drug-resistant epilepsy while safeguarding neurological and cognitive functions. Among these strategies, anterior temporal lobectomy (ATL), involving the removal of the temporal pole and mesial temporal structures, has emerged as a widely employed technique. Numerous modifications have been proposed to mitigate the risks associated with aphasia, cognitive issues, and visual field defects. Our approach is elucidated through intraoperative and cadaveric dissections, complemented by neuroradiological and cadaveric measurements of key anatomical landmarks. A retrospective analysis of patients with drug-resistant MTLE who were treated using our ATL technique at IRCCS Neuromed (Pozzilli) is presented. A total of 385 patients were treated with our ATL subpial technique anatomically focused on the anterior Sylvian point (ASyP). The mean FU was 9.9 ± 5.4 years (range 1-24). In total, 84%of patients were free of seizures during the last follow-up, with no permanent neurological deficits. Transient defects were as follows: aphasia in 3% of patients, visual field defects in 2% of patients, hemiparesis in 2% of patients, and cognitive/memory impairments in 0.8% of patients. In cadaveric dissections, the ASyP was found at a mean distance from the temporal pole of 3.4 ± 0.2 cm (range 3-3.8) at the right side and 3.5 ± 0.2 cm (3.2-3.9) at the left side. In neuroimaging, the ASyP resulted anterior to the temporal horn tip in all cases at a mean distance of 3.2 ± 0.3 mm (range 2.7-3.6) at the right side and 3.5 ± 0.4 mm (range 2.8-3.8) at the left side. To the best of our knowledge, this study first introduces the ASyP as a reliable and reproducible cortical landmark to perform the ATL to overcome the patients' variabilities, the risk of Meyer's loop injury, and the bias of intraoperative measurements. Our findings demonstrate that ASyP can be a safe cortical landmark that is useful in MTLE surgery because it is constantly present and is anterior to risky temporal regions such as temporal horn and language networks.

LGG-03. PREDICTIVE VALUE OF ACQUIRED NYSTAGMUS FOR PEDIATRIC BRAIN TUMOR ASSOCIATED VISUAL IMPAIRMENT: A RETROSPECTIVE STUDY

Abstract BACKGROUND Visual impairment (VI), defined as visual acuity (VA) loss or visual field (VF) defects, is common in pediatric brain tumors of the optic pathway and may impact the quality of life. VI is a challenge to establish, especially in young children. However, pediatric brain tumor patients might concurrently have acquired nystagmus (AN), which can easily be observed. The aim of this study was to investigate whether AN is predictive of VI in pediatric brain tumor patients. If correlated, AN could be an early warning sign for brain tumor related VI, warranting MRI scanning to prevent further visual deterioration, thus decreasing morbidity and mortality. METHODS Data on tumor characteristics, VA (in LogMAR), VF, (type of) AN and other ophthalmic investigations were collected from the medical records of pediatric brain tumor patients in the Máxima Pediatric Brain Tumor Ophthalmology cohort (MP-BT-O cohort). These characteristics between children with (nystagmus group) and without (control group) AN were compared to determine the predictors of VI. RESULTS The MP-BT-O cohort consists of 389 children (≤18y) with a brain tumor who had visual assessment, 95 children had AN (24.4%). The mean best corrected visual acuity (BCVA) was 0.10 LogMAR [CI 0.06-0.14] in the control and 0.50 LogMAR [CI 0.35-0.66] in the nystagmus group (p&amp;lt;0.001). Nystagmus type was found to be a significant predictor of VI (p&amp;lt;0.001). Specifically horizontal AN (a decrease in BCVA of 0.75 LogMAR, p&amp;lt;0.001) and mixed AN (a decrease in BCVA of 0.61 LogMAR, p&amp;lt;0.001) were independent predictors of VI, corrected for tumor location (p=0.04) and age at diagnosis (an increase in BCVA of -0.02 LogMAR per year, p&amp;lt;0.001). CONCLUSIONS Acquired nystagmus, especially horizontal and mixed nystagmus, is an independent predictor of VI in pediatric brain tumor patients and should be interpreted as a warning sign for the presence of VI.

Comparing a Head-Mounted Smartphone Visual Field Analyzer to Standard Automated Perimetry in Glaucoma: A Prospective Study.

Wang et al compare an FDA-registered head-mounted smartphone device (PalmScan VF2000) with standard automated perimetry (SAP) in glaucoma patients and find that the head-mounted device may not fully recapitulate SAP testing. This study prospectively compared visual field testing using the PalmScan VF2000 Visual Field Analyzer, a head-mounted smartphone device, with standard automated perimetry (SAP). Patients with glaucoma undergoing Humphrey Field Analyzer SAP testing were asked to complete in-office PalmScan testing using a Samsung S5 smartphone in a virtual reality-style headset. Glaucoma severity was defined as SAP mean deviation (MD) >-6 dB for mild, between -6 and -12 dB for moderate, and <-12 dB for severe. Global parameters MD and pattern SD from PalmScan and SAP were compared using t -tests and Bland-Altman analyses. Bland-Altmann analyses of PalmScan and SAP MD were conducted for the superonasal, superotemporal, inferonasal, and inferotemporal visual field quadrants. The repeatability of PalmScan was assessed using Spearman's correlations and intraclass correlation coefficients (ICCs). Fifty-one patients (51 eyes) completed both SAP and PalmScan testing and met the criteria for analysis. Compared with SAP, global MD and pattern SD measurements from PalmScan differed by an average of +0.62±0.26 dB (range: -3.25 to +4.60 dB) and -1.00±0.24 dB (range: -6.03 to +2.77 dB), respectively, while MD scores from individual visual field quadrants differed by as much as -6.58 to +11.43 dB. The agreement between PalmScan and SAP in classifying glaucoma severity was 86.3% across all eyes. PalmScan and SAP identified the same quadrant as having the worst visual field defect in 66.7% of eyes. Despite advantages in cost and accessibility, the PalmScan head-mounted perimetry device may not be able to fully recapitulate SAP testing.

Two Cases of Ischemic Optic Neuropathy after Extracorporeal Membrane Oxygenation (ECMO)

Purpose: We report two cases of non-arteritic ischemic optic neuropathy (NAION) following extracorporeal membrane oxygenation (ECMO) treatment.Case summary: (Case 1) A 36-year-old man underwent ECMO treatment. Upon regaining consciousness, he complained of a darkened peripheral visual field and was subsequently referred to an ophthalmologist. His best-corrected visual acuity was 0.9 in the right eye and 0.8 in the left eye. The intraocular pressure measured 12 mmHg in the right eye and 10 mmHg in the left eye; color vision was normal. A visual field test demonstrated concentric visual field defects in both eyes, and a fundus examination revealed a pale optic disc. Optical coherence tomography (OCT) indicated a decrease in retinal nerve fiber layer (RNFL) thickness. (Case 2) A 48-year-old woman underwent ECMO treatment. After regaining consciousness, she reported decreased vision in her right eye. Her best-corrected visual acuity was limited to hand motion in the right eye and was 1.2 in the left eye. A relative afferent pupillary defect in the right eye was observed. Color vision in the right eye was compromised, and a fundus examination revealed a pale optic disc. A visual field test demonstrated total visual field defect in the right eye, while OCT showed decreases in both the RNFL thickness and the ganglion cell-inner plexiform layer thickness of the right eye. Magnetic resonance imaging (MRI) revealed high signal intensity and abnormal enhancement in the right retrobulbar optic nerve.Conclusions: In cases where vision loss and visual field defects are observed following ECMO treatment, differential diagnoses for ischemic optic neuropathy are warranted.

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry

BackgroundThe low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.MethodsA total of 864 patients from the registry database were included. Diseases were categorized into inherited retinal dystrophies (n=688); anterior segment diseases (n=48); congenital malformations (n=27); and syndromic diseases with ocular involvement including muscular (n=46), neurological (n=34), or metabolic (n=13); inflammatory diseases (n=4); and tumors (n=4). Data on visual acuity (VA) and/or visual field (VF), symptoms and signs, concurrent diseases in syndromic cases, age of onset and at diagnosis, affected genes, disability rating, inability to work and dependency grade recognition were collected.ResultsA mean diagnostic delay of 7 years from symptom onset was observed. Commonly reported symptoms included photophobia, night blindness, and progressive vision loss (≥57% of patients). Cataract was the most prevalent secondary disease (46%), with pseudophakia being the most common ocular surgery (26%). Hearing loss and cardiovascular diseases were the most prevalent concurrent systemic diseases (≥13%). Certificates of disability, incapacity for work, and dependency were held by 87%, 42%, and 19% of patients, respectively. Among the 719 patients with available VA data, 193 (27%) were blind, and 188 (26%) had moderate to severe visual impairment. Over half of the patients (54%) exhibited VF defects, and 216 (25%) had concentric contraction ≤5° or abolished VF. Most had genetic diseases with autosomal recessive (55%), autosomal dominant (30%), X-linked (9%), and mitochondrial (6%) patterns. One patient had mutations in both recessive USH2A and dominant RHO genes simultaneously. Of the 656 patients (75.7%) who underwent genetic testing, only 461 (70.3%) received a positive result (pathogenic or likely pathogenic mutations explaining the phenotype). We found 62 new gene variants related to RED not previously reported in databases of genetic variants related to specific phenotypes.ConclusionsThis study delineates the clinical and genotypic profiles of RED in Spain. Genetic diseases, particularly retinal disorders, predominate, but a significant proportion of affected patients remain genetically undiagnosed, hindering potential gene therapy endeavors. Despite notable improvements in reducing diagnosis delays, it is still remarkable. RED frequently lead to disability and blindness among young populations.

Diagnostic ability of the combination of retinal microvasculature evaluation and static automated perimetry for early primary open-angle glaucoma.

To investigate the diagnostic ability of retinal superficial vasculature evaluation by optic coherence tomography angiography (OCTA) combined with visual field (VF) testing for early primary open-angle glaucoma (POAG). In this cross-sectional study, 84 participants were included, including 11 in the ocular hypertension (OHT) group, 11 in the preperimetric POAG (pre-POAG) group, 29 in the early POAG group and 33 in the control group. All participants underwent 6 × 6 mm2 scans of macula and optic nerved head by optic coherence tomography (OCT) and OCTA, along with white-on-white and blue-on-yellow VF testing by static automated perimetry. The ability of diagnosing early glaucoma by either various examinations separately or combination of examinations in both terms of function and structure was studied using the receiver operating characteristic (ROC) curve and the area under the curve (AUC). The superficial retinal vessel densities (VD) in peri-nasal, para-temporal, peri-temporal and peri-inferior regions around the macula, as well as vessel area densities (VAD) in all peripapillary regions, were significantly different among the four groups, with lower VD or VAD in the early POAG patients compared to the normal individuals. The diagnostic ability of peripapillary superficial retinal VAD alone or VF testing alone was limited for early POAG only. However, the combination of these two was more effective in distinguishing normal individuals from OHT subjects or pre-POAG patients without VF defects, with better performance than the combination of peripapillary retinal nerve fiber layer (RNFL) thickness and VF indicators. Peripapillary retinal vessel densities were generally lower in early POAG patients compared to normal individuals. The combination of peripapillary superficial retinal VAD by OCTA with white-on-white VF testing improved the ability to distinguish POAG patients at early stage without function impairment, which may help in providing reference and guidance for the following-up and treatment of suspected POAG patients.