Loss Of Acuity Research Articles

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<0.001). Nystagmus type was found to be a significant predictor of VI (p<0.001). Specifically horizontal AN (a decrease in BCVA of 0.75 LogMAR, p<0.001) and mixed AN (a decrease in BCVA of 0.61 LogMAR, p<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<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.

NFS-23. ASSOCIATION OF LOCALIZED MAGNETIC RESONANCE IMAGING FEATURES IN ANTERIOR VISUAL PATHWAY WITH VISUAL ACUITY LOSS AMONG CHILDREN WITH NF1-OPG

Abstract BACKGROUND Half of children with optic pathway gliomas associated with neurofibromatosis type 1 (NF1-OPG) are at risk for vision acuity (VA) loss. NF1-OPGs manifest along the anterior visual pathway (AVP), where the overall shape and volume from MRI have been recently associated with VA loss. To investigate the added value of localized features within the optic nerves (ONs) and chiasm, we propose an automatic deep-learning framework for VA loss prediction from volumetric and radiomic analysis of ONs, chiasm, and AVP. METHODS We collected MRIs of 60 children with NF1-OPG from Children’s National Hospital (CNH, GE platform) and 75 from Children’s Hospital of Philadelphia (CHOP, Siemens platform). MRI sequences included T1-, T2-weighted and T2-FLAIR. Experts annotated the AVP to establish ground truth. Neuro-ophthalmic evaluation identified VA loss (LogMAR >= 0.2) in 52/135 children. Automatic AVP segmentation was performed using the Swin transformer network. ONs and chiasm were split through template-based registration. Brain volume, tumor location, child age, and 1,172 radiomic features were used to predict VA loss using support vector machines. Sequential feature selection associated with risk VA loss was done using sensitivity and univariate statistical tests (ANOVA). We compared predictions based on new ON and chiasm analysis with results based on AVP alone. RESULTS Balanced accuracy, sensitivity, specificity, and AUROC of VA loss prediction were 0.865, 0.882, 0.857, 0.899, respectively. Significant risk factors were maximal image intensity and gray level run length entropy in T2-FLAIR for ONs, and image intensity range in T2-FLAIR for chiasm. AUROC based on analysis of AVP alone dropped to 0.728 (p-value=0.028). CONCLUSIONS Deep learning-based analysis indicates an association of new localized MRI features in ONs and chiasm with VA loss, which show enhanced capability in predicting VA loss. This automated framework has the potential to accelerate and guide the treatment decisions for children with NF1-OPGs.

Hazard Perception in Visually Impaired Drivers Who Use Bioptic Telescopes.

Bioptic telescopic spectacles can allow individuals with central vision impairment to obtain or maintain driving privileges. The purpose of this study was to (1) compare hazard perception ability among bioptic drivers and traditionally licensed controls, (2) assess the impact of bioptic telescopic spectacles on hazard perception in drivers with vision impairment, and (3) analyze the relationships among vision and hazard detection in bioptic drivers. Visual acuity, contrast sensitivity, and visual field were measured for each participant. All drivers completed the Driving Habits Questionnaire. Hazard perception testing was conducted using commercially available first-person video driving clips. Subjects signaled when they could first identify a traffic hazard requiring a change of speed or direction. Bioptic drivers were tested with and without their bioptic telescopes in alternating blocks. Hazard detection times for each clip were converted to z-scores, converted back to seconds using the average response time across all videos, and then compared among conditions. Twenty-one bioptic drivers and 21 normally sighted controls participated in the study. The hazard response time of bioptic drivers was improved when able to use the telescope (5.4 ± 1.4 seconds vs 6.3 ± 1.8 seconds without telescope); however, it remained significantly longer than for controls (4.0 ± 1.4 seconds). Poorer visual acuity, contrast sensitivity, and superior visual field sensitivity loss were related to longer hazard response times. Drivers with central vision loss had improved hazard response times with the use of bioptic telescopic spectacles, although their responses were still slower than normally sighted control drivers. The use of a bioptic telescope by licensed, visually impaired drivers improves their hazard detection speed on a video-based task, lending support to their use on the road.

Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations

Epiretinal membrane (ERM) is a common retinal condition characterized by the presence of fibrocellular tissue on the retinal surface, often with visual distortion and loss of visual acuity. We studied European American (EUR), African American (AFR), and Latino (admixed American, AMR) ERM participants in the Million Veteran Program (MVP) for genome-wide association analysis-a total of 38,232 case individuals and 557,988 control individuals. We completed a genome-wide association study (GWAS) in each population separately, and then results were meta-analyzed. Genome-wide significant (GWS) associations were observed in all three populations studied: 31 risk loci in EUR subjects, 3 in AFR, and 2 in AMR, with 48 in trans-ancestry meta-analysis. Many results replicated in the FinnGen sample. Several GWS variants associate to alterations in gene expression in the macula. ERM showed significant genetic correlation to multiple traits. Pathway enrichment analyses implicated collagen and collagen-adjacent mechanisms, among others. This well-powered ERM GWAS identified novel genetic associations that point to biological mechanisms for ERM.

Clinical characteristics, visual acuity outcomes, and factors associated with loss of vision among patients with active ocular toxoplasmosis: A retrospective study in a Thai tertiary center.

Ocular toxoplasmosis (OT) is the most common cause of infectious uveitis worldwide, including Thailand. This study describes the clinical presentation, visual acuity (VA) outcomes, and factors associated with VA loss in patients with active OT following antiparasitic treatment. A retrospective chart review of patients with active OT treated with antiparasitic drugs between 2010 and 2020 was performed. Outcome measures included clinical characteristics, interval VA, and predictive factors associated with loss of VA ≤ 20/50 at 6 months post-treatment. Ninety-two patients (95 eyes) were enrolled. The median follow-up time was 10.9 months (IQR 4.9-31.8 months). The median age at presentation was 35.9 years, 51% were male, and 92.4% had unilateral OT. Eleven patients (12%) were immunocompromised (HIV infection, eight patients; receiving immunosuppressive agents, three patients). Patients mainly presented with primary retinitis without previous scar (62%), posterior pole lesion (56%), and lesion size of ≤ 2-disc area (75%). Immunocompromised patients showed a significantly larger size of retinitis than immunocompetent patients. Oral trimethoprim/sulfamethoxazole monotherapy was the primary short-term antiparasitic drug prescribed (85%). At the final visit, 21% of all affected eyes suffered VA ≤ 20/200. The cumulative incidence of recurrent OT at three years was 33.9% (95% CI, 19.7%-54.2%). Immunocompromised patients [adjusted odds ratio (aOR) 4.9, p = 0.041], macular lesion (aOR 5.4, p = 0.032), and initial VA ≤ 20/200 (aOR 9.1, p = 0.014) were predictive of having VA ≤ 20/50 at 6 months post-treatment. Ocular toxoplasmosis mainly presents as unilateral primary retinitis within the posterior pole. Severe VA loss was observed in one-fifth of eyes following treatment with lesion resolution. Immunocompromised patients, eyes with macular lesions, and poor initial VA were associated with poor VA outcomes.

Ellipsoid Zone Integrity and Visual Function in Dry Age-Related Macular Degeneration.

In this longitudinal retrospective image analysis, conducted on patients diagnosed with dry age-related macular degeneration (AMD) and 5 years of follow-up imaging data, the study aimed to investigate the relationship between ellipsoid zone (EZ) integrity on spectral domain optical coherence tomography (SD-OCT) and visual acuity (VA). Using a machine learning-enabled feature extraction tool, quantitative EZ parameters were derived from SD-OCT images. The analysis revealed significant correlations between EZ integrity metrics and VA. Eyes with excellent VA (≥20/25 Snellen) exhibited higher EZ integrity, including less EZ attenuation, thicker ellipsoid zone-retinal pigment epithelium (EZ-RPE) thickness, and higher EZ intensity, in contrast to eyes with worse VA (≤20/40 Snellen). Additionally, eyes with geographic atrophy (GA) in the foveal region displayed compromised EZ integrity compared to those without GA. Notably, baseline EZ integrity metrics were predictive of future VA loss. These findings suggest that quantitative SD-OCT measurements of EZ integrity could potentially detect early changes in dry AMD and serve as valuable indicators for predicting future functional outcomes. Furthermore, these measurements hold promise for use in clinical trial screenings, offering insights into the progression of the disease and its impact on visual acuity. This study underscores the importance of EZ integrity assessment in understanding and managing dry AMD.

Case Report: Branch retinal vein occlusion following COVID-19 vaccination and SARS-CoV-2 infection while taking oral contraceptives

Oral contraceptive use, vaccination for Coronavirus disease 2019 (COVID-19), and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection are risk factors for venous thromboembolism. Branch retinal vein occlusion (BRVO) generally develops mid-60s patients. Herein, we present a case of BRVO caused by the above mentioned risk factors in a young woman. To the best of our knowledge, this is the first report about BRVO associated with oral contraceptives, COVID-19 vaccination, and SARS-CoV-2. A 21-year-old woman presented with loss of visual acuity in her right eye for 10 days. She had been receiving oral contraceptives for 2 years for oligomenorrhea before noticing ophthalmological symptoms. Despite having received two doses of an mRNA COVID-19 vaccine, she contracted COVID-19 and developed fever, sore throat, cough, low back pain, and general malaise about 40 days before the initial visit. However, only cough persisted for more than a month. The right eye showed BRVO with macular edema (ME). She did not smoke nor had diabetes or hypertension. Blood test results, including cardiolipin antibody IgG, were normal. She was treated with an intravitreal aflibercept injection. ME in the fundus showed rapid improvement and resolution. Although more than 20 months have passed since the first injection, there has been no relapse of ME. The combination of oral contraceptive use, COVID-19 vaccination, and subsequent SARS-CoV-2 infection could induce the development of venous thromboembolism, thereby leading to BRVO. Given that cases of COVID-19 have increased globally, patients with retinal vein occlusion who use oral contraceptives are likely to be encountered more frequently.

Quality of Life Analysis in Patients with Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a chronic progressive disease causing loss of visual acuity and ultimately blindness. This visual impairment can contribute to psychiatric comorbidity and worse overall quality of life (QOL). Our goal was to assess the relationship between the severity of disease for people with RP and QOL as it pertains to mental health, social support, disability resources, and financial factors. This was a survey study conducted from June 2021 to February 2022 including 38 people with RP. QOL was assessed through a survey questionnaire focusing specifically on demographics, visual function, family, employment, social support, and mental health/well-being. Statistical analysis was conducted using a χ2 test for significance. A best corrected visual acuity (BCVA) of less than 20/200 (p = 0.0285) and living alone (p = 0.0358) were both statistically significant independent risk factors for experiencing depressive symptoms. Highest education level attained and unemployment rate were not found to be related to the development of depressive symptoms. Subjects had a higher unemployment rate (64% vs. US rate of 3.6%) and a high likelihood of reporting depressive symptoms (47.4%). People with RP are more likely to be unemployed and to develop depressive symptoms when compared to the general population. Similar to previous studies' findings, those with a BCVA of less than 20/200 were statistically more likely to experience depressive symptoms; living alone is a novel risk factor that is also associated with the presence of depressive symptoms. Contrary to prior findings, highest education level and unemployment status were found not to be related to the development of depressive symptoms. These patients may benefit from regular depression screenings and optional establishment of care with a psychiatrist or psychologist if they live alone or their BCVA is 20/200 or worse.

POU6F2, a risk factor for glaucoma, myopia and dyslexia, labels specific populations of retinal ganglion cells

Pou6f2 is a genetic connection between central corneal thickness (CCT) in the mouse and a risk factor for developing primary open-angle glaucoma. POU6F2 is also a risk factor for several conditions in humans, including glaucoma, myopia, and dyslexia. Recent findings demonstrate that POU6F2-positive retinal ganglion cells (RGCs) comprise a number of RGC subtypes in the mouse, some of which also co-stain for Cdh6 and Hoxd10. These POU6F2-positive RGCs appear to be novel of ON–OFF directionally selective ganglion cells (ooDSGCs) that do not co-stain with CART or SATB2 (typical ooDSGCs markers). These POU6F2-positive cells are sensitive to damage caused by elevated intraocular pressure. In the DBA/2J mouse glaucoma model, heavily-labeled POU6F2 RGCs decrease by 73% at 8 months of age compared to only 22% loss of total RGCs (labeled with RBPMS). Additionally, Pou6f2−/− mice suffer a significant loss of acuity and spatial contrast sensitivity along with an 11.4% loss of total RGCs. In the rhesus macaque retina, POU6F2 labels the large parasol ganglion cells that form the magnocellular (M) pathway. The association of POU6F2 with the M-pathway may reveal in part its role in human glaucoma, myopia, and dyslexia.

Clinical efficacy of dexamethasone parabulbar injection in patients with Nonarteritic anterior ischemic optic neuropathy

BackgroundNonarteritic anterior ischemic optic neuropathy (NAAION) is a common optic neuropathy that often leads to significant visual acuity loss in patients. The present study evaluated the effects of parabulbar dexamethasone injection on visual outcomes in patients with NAAION. MethodsThis retrospective case-control study included patients diagnosed with NAAION between January 2019 and December 2022. Thirty-four patients with NAAION (34 eyes) received dexamethasone parabulbar injections, while 39 patients with NAAION (39 eyes) received oral corticosteroid treatment (control group). Best-corrected visual acuity (BCVA), visual field (VF) defect, and retinal nerve fiber layer (RNFL) thickness of the affected eye were compared between groups at baseline and 2, 6, and 12 weeks post-treatment. ResultsMean BCVA significantly improved after 6 and 12 weeks in the injection groups compared with the control group (all P < 0.01). The visual field indices, mean deviation and pattern standard deviation significantly improved in the injection group compared with the control group after 2, 6, and 12 weeks (all P < 0.01). The RNFL showed a remarkable decrease in edema after 6 weeks (superior and nasal P values 0.005 and 0.013, respectively) in the injection group compared with the control group. Significant RNFL thinning was also observed in superior, inferior, temporal, and nasal quadrants in the control group after 12 weeks (all P values < 0.01). Also, fewer side effects were observed in the injection group compared to the control group. ConclusionsThe results of this study suggested that dexamethasone parabulbar injection might be a safe and effective intervention for relieving visual acuity and VF in patients with NAAION.

Peripheral Binocular Imbalance in Anisometropic and Strabismic Amblyopia.

Individuals with amblyopia experience central vision deficits, including loss of visual acuity, binocular vision, and stereopsis. In this study, we examine the differences in peripheral binocular imbalance in children with anisometropic amblyopia, strabismic amblyopia, and typical binocular vision to determine if there are systematic patterns of deficits across the visual field. This prospective cohort study recruited 12 participants with anisometropic amblyopia, 10 with strabismic amblyopia, and 10 typically sighted controls (age range, 5-18years). Binocular imbalance was tested at 0°, 4°, and 8° eccentricities (4 angular locations each) using band-pass filtered Auckland optotypes (5 cycles per optotype) dichoptically presented with differing contrast to each eye. The interocular contrast ratio was adjusted until the participant reported each optotype with equal frequency. Participants with anisometropic and strabismic amblyopia had a more balanced contrast ratio, or decreased binocular imbalance, at 4° and 8° eccentricities as compared with central vision. Participants with strabismic amblyopia had significantly more binocular imbalance in the periphery as compared with individuals with anisometropic amblyopia or controls. A linear mixed effects model showed a main effect for strabismic amblyopia and eccentricity on binocular imbalance across the visual field. There is evidence of decreased binocularity deficits, or interocular suppression, in the periphery in anisometropic and strabismic amblyopia as compared with controls. Notably, those with strabismic amblyopia exhibited more significant peripheral binocular imbalance. These variations in binocularity across the visual field among different amblyopia subtypes may necessitate tailored approaches for dichoptic treatment.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

BackgroundThis report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.Case PresentationThe male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.Discussion and conclusionsOur findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

Photocoagulation or sham laser in addition to conventional anti-VEGF therapy in macular edema associated with TelCaps due to diabetic macular edema or retinal vein occlusion (TalaDME): a study protocol for a multicentric, French, two-group, non-commercial, active-control, observer-masked, non-inferiority, randomized controlled clinical trial

BackgroundMacular edema (ME) results from hyperpermeability of retinal vessels, leading to chronic extravasation of plasma components into the retina and hence potentially severe visual acuity loss. Current standard of care consists in using intravitreal injections (IVI), which results in a significant medical and economic burden. During diabetic retinopathy (DR) or retinal vein occlusion (RVO), it has recently been shown that focal vascular anomalies (capillary macro-aneurysms, also termed TelCaps) for telangiectatic capillaries may play a central role in the onset, early recurrence, and/or persistence of ME. Since targeted photocoagulation of TelCaps may improve vision, identification, and photocoagulation of TelCaps, it may represent a way to improve management of ME.ObjectiveThe Targeted Laser in (Diabetic) Macular Edema (TalaDME) study aims to evaluate whether ICG-guided targeted laser (IGTL), in association with standard of care by IVI, allows reducing the number of injections during the first year of treatment compared with IVI only, while remaining non-inferior for visual acuity.MethodsTalaDME is a French, multicentric, two-arms, randomized, sham laser-controlled, double-masked trial evaluating the effect of photocoagulation of TelCaps combined to IVI in patients with ME associated with TelCaps. Patients with vision loss related to center involved ME secondary to RVO or DR and presenting TelCaps are eligible. Two hundred and seventy eyes of 270 patients are randomized in a 1:1 ratio to standard care, i.e., IVI of anti-VEGF solely (control group) or combined with IGTL therapy (experimental group). Stratification is done on the cause of ME (i.e., RVO versus diabetes). Anti-VEGF IVI are administered to both groups monthly for 3 months (loading dose) and then with a pro re nata regimen with a monthly follow-up for 12 months. The primary endpoint will be the number of IVI and the change in visual acuity from baseline to 12 months. Secondary endpoints will be the changes in central macular thickness, impact on quality of life, cost of treatment, and incremental cost-utility ratio in each groups.Key safetyRare but severe AE linked to the use of IVI and laser, and previously described, are expected. In the sham group, rescue laser photocoagulation may be administered by the unmasked investigator if deemed necessary at month 3.DiscussionThe best management of ME associated with TelCaps is debated, and there have been no randomized study designed to answer this question. Given the fact that TelCaps may affect 30 to 60% of patients with chronic ME due to DR or RVO, a large number of patients could benefit from a specific management of TelCaps. TalaDME aims to establish the clinical and medico-economic benefits of additional targeted laser. The results of TalaDME may raise new recommendations for managing ME and impact healthcare costs.Trial registrationEudraCT: 2018-A00800-55/ NCT03751501. Registration date: Nov. 23, 2018.

Does a Healthy Weight Body Mass Index at Onset of Idiopathic Intracranial Hypertension Change the Outcomes? A United Kingdom Prospective Cohort Study

ABSTRACT Idiopathic intracranial hypertension (IIH) predominantly affects reproductive-aged females with obesity. However, the prevalence and impact of a healthy weight body mass index (BMI) at disease presentation is not known. This study aimed to evaluate the visual and headache outcomes stratified by the presenting BMI. This was a longitudinal prospective cohort study (IIH Life) based on a tertiary neuro-ophthalmology IIH service, University Hospitals Birmingham NHS Trust, United Kingdom, recruiting consecutive patients living with IIH between 2012 and 2021. Those with a presenting BMI were included. The outcome measures included visual outcomes of LogMAR visual acuity, Humphrey visual field perimetric mean deviation (PMD), optical coherence tomography (OCT) measurements, and headache outcomes of frequency, severity, and Headache Impact Test-6 score. Three hundred seventy-five people with IIH and a documented baseline BMI. About 3.7% of the entire cohort had a healthy weight BMI at IIH presentation and 15.5% BMI < 30 kg/m2. The baseline PMD was worse in patients without obesity; however, OCT papilloedema measures were similar. The presence of obesity was associated with a small but significant greater worsening in visual acuity but slower macular ganglion cell layer loss. There was no impact on PMD or papilloedema prognosis related to baseline obesity. The headache outcomes showed heterogeneity, with worse baseline headache frequency in patients with obesity. No BMI group was associated with worse headache outcomes. Patients with a healthy weight BMI or those without obesity at baseline make up a small proportion of IIH patients. BMI at presentation does not appear to influence long-term visual or headache outcomes.

Challenges of Secondary Glaucoma Management Following Congenital Cataract Surgery, Penetrating Keratoplasty and Vitreoretinal Surgery.

Glaucoma is one of the world's leading causes of irreversible vision loss. It is often asymptomatic until it reaches an advanced stage, which can have a significant impact on patients' daily lives. This paper describes the case of a 50-year-old female patient who presented with acute onset of ocular pain, photophobia, and loss of visual acuity in her right eye (RE). The patient's medical history includes congenital cataracts, surgical aphakia, nystagmus, strabismus, amblyopia, and secondary glaucoma. Ophthalmological examination showed BCVA RE-hand movement, left eye (LE)-0.08 with an intraocular pressure (IOP) of 30 mmHg in RE and 16 mmHg in LE. Biomicroscopic examination of RE showed corneal graft, epithelial and endothelial edema, endothelial precipitates, corneal neovascularization, aphakia, and Ahmed valve superotemporally. Despite maximal topical and systemic treatment, Ahmed valve, and trabeculectomy, secondary glaucoma in the right eye remained refractory. Reimplantation of an Ahmed valve was performed. This resulted in a favorable outcome with increased visual acuity and controlled intraocular pressure. The combination of aphakia, penetrating keratoplasty, and secondary glaucoma is a challenge for any surgeon. It is important that both the perioperative risks and the possible complications are carefully assessed in each patient, especially if associated pathology is present.

Remote olfactory assessment using the NIH Toolbox Odor Identification test and the brain health registry.

Early identification of deficits in our ability to perceive odors is important as many normal (i.e., aging) and pathological (i.e., sinusitis, viral, neurodegeneration) processes can result in diminished olfactory function. To realistically enable population-level measurements of olfaction, validated olfaction tests must be capable of being administered outside the research laboratory and clinical setting. The purpose of this study was to determine the feasibility of remotely testing olfactory performance using a test that was developed with funding from the National Institutes of Health as part of a ready-to-use, non-proprietary set of measurements useful for epidemiologic studies (NIH Toolbox Odor ID Test). Eligible participants older than 39 years and active (within 6 months) in the Brain Health Registry (BHR), an online cognitive assessment platform which connects participants with researchers, were recruited for this study. Interested participants were mailed the NIH Toolbox Odor ID Test along with instructions on accessing a website to record their responses. Data obtained from subjects who performed the test at home was compared to the normative data collected when the NIH Toolbox Odor ID Test was administered by a tester in a research setting and validated against the Smell Identification Test. The age-range and composition of the population ensured we had the ability to observe both age-related decline and gender-related deficits in olfactory ability, as shown in the experimental setting. We observed that age-associated olfactory decline and gender-associated performance was comparable to performance on the administered test. Self-administration of this test showed the age-related loss in olfactory acuity, F(4, 1156)=14.564, p<.0001 as well as higher accuracy for women compared to men after controlling for participants' age, F(1, 1160) = 22.953, p <.0001. The effect size calculated as Hedge's g, was 0.41. These results indicate that the NIH Toolbox Odor ID Test is an appropriate instrument for self-administered assessment of olfactory performance. The ability to self-administer an inexpensive olfactory test increases its utility for inclusion in longitudinal epidemiological studies and when in-person testing is not feasible.

Clinical Insights into Bardet-biedl Syndrome and Retinitis Pigmentosa: A Case Report

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by learning impairments, obesity, post-axial polydactyly, retinal dystrophy, and hypogonadism. Numerous related minor characteristics are crucial for the clinical management of BBS and can aid in the diagnosing process. In 80% of patients, sequencing known disease-causing genes can confirm the diagnosis, which is based on clinical symptoms. BBS genes encode proteins involved in cilia biogenesis and function that localize to the basal body and cilia. Defective cilia resulting from mutations partially explain the pleiotropic effects seen in BBS. We report the case of a 23-year-old patient referred to the nephrology department for progressive bilateral visual acuity loss.

Novel Biomaterials in Glaucoma Treatment.

Glaucoma is a significant cause of blindness worldwide, and its treatment remains challenging. The disease progressively leads to damage to the optic disc and thus loss of visual acuity and visual field. High intraocular pressure (IOP) is a common risk factor. There are three major methods to treat this disease: topical, laser, and surgical. None of these are completely satisfactory; therefore, alternatives using new biomaterials are being sought. Since biomaterial engineering has experienced significant growth in recent decades, its products are gradually being introduced to various branches of medicine, with the exception of ophthalmology. Biomaterials, such as glaucoma drainage implants, have been successfully used to treat glaucoma. There is significant ongoing research on biomaterials as drug delivery systems that could overcome the disadvantages of topical glaucoma treatment, such as poor intraocular penetration or frequent drug administration. This article summarizes the use of novel biomaterials for glaucoma treatment presented in the literature. The literature search was based on articles published in English on PubMed.gov, Cochranelibrary.com, and Scopus.com between 2018 and 2023 using the following term "biomaterials in glaucoma." A total of 103 published articles, including twenty-two reviews, were included. Fifty-nine articles were excluded on the basis of their titles and abstracts.

Prediction of Functional and Anatomic Progression in Lamellar Macular Holes

PurposeTo use artificial intelligence to identify imaging biomarkers for anatomical and functional progression of lamellar macular hole (LMH) and to elaborate a deep learning (DL) model based on optical coherence tomography (OCT) and OCT angiography (OCTA) for prediction of visual acuity (VA) loss in untreated LMHs. DesignMulticentric retrospective observational study ParticipantsPatients >18 years old diagnosed with idiopathic LMHs with availability of good quality OCT and OCTA acquisitions at baseline and a follow up>2 years were recruited. MethodsA DL model based on soft voting of two separate models (OCT and OCTA-based respectively) was trained for identification of cases with VA loss> 5 ETDRS letters (attributable to LMH progression only) during a 2-years follow-up. Biomarkers of anatomical and functional progression of LMH were evaluated with regression analysis, feature learning(support vector machine(SVM) model) and visualization maps. Main Outcome measuresEllipsoid zone(EZ) damage, volumetric tissue loss (TL), vitreopapillary adhesion (VPA), epiretinal proliferation, central macular thickness (CMT), parafoveal vessel density (VD) and vessel length density (VLD) of retinal capillary plexa, choriocapillaris (CC) flow deficit density (FDD). ResultsFunctionally progressing LMHs (VA-PROG group, 41/139 eyes (29.5%)) showed higher prevalence of EZ damage, higher volumetric TL, higher prevalence of VPA, lower superficial capillary plexus(SCP) VD and VLD and higher CC FDD compared to functionally stable LMHs (VA-STABLE group,98/139 eyes (70.5%)). The DL and SVM models showed 92.5% and 90.5% accuracy respectively. The best performing features in the SVM were EZ damage, TL, CC FDD and parafoveal SCP VD. Epiretinal proliferation and lower CMT were risk factors for anatomical progression only. ConclusionsDL can accurately predict functional progression of untreated LMHs over 2 years. The use of AI might improve our understanding of the natural course of retinal diseases. Integrity of CC and SCP might play an important role in the progression of LMHs.

Ophthalmological Outcomes in Patients with Susac Syndrome.

To report ophthalmological outcomes and treatment regimen in patients with Susac syndrome. This is a retrospective analysis of patients with Susac syndrome treated between November 2015 and March 2023. Multimodal imaging findings, ophthalmic examination data, information on neurological and sensorineural involvement, and therapeutic regimen were reviewed. Visual acuity was recorded as the logarithm of the minimum angle of resolution (logMAR). Ophthalmological manifestations and disease severity were assessed using the previously described clinical activity score (CAS). Ten patients with Susac syndrome m : f = 5 : 5 were identified. The mean follow-up time was 31.2 ± 23.3 months (range 1 to 78 months). The mean age was 41.4 ± 13.8 years (range 21 to 59 years). At baseline, corrected distance visual acuity (CDVA) was 0.03 ± 0.08 logMAR. At the last follow-up, CDVA improved to 0.00 ± 0.03 logMAR (p = 0.029). Three of 20 eyes showed an improvement of 5 letters, while no loss of visual acuity was recorded during the follow-up time. Baseline CAS was 10.65 ± 12.69, and CAS at the last follow-up was 5.15 ± 5.49 (p = 0.068). Except for one patient, all were initially treated with intravenous (i. v.) steroids and subsequent oral tapering. Depending on the treatment response, cyclophosphamide (n = 4), i. v. immunoglobulins (IVIGs) (n = 4), anti-CD20 antibodies (n = 3), or plasmapheresis (n = 1) were applied. All patients under treatment for more than 1 month (n = 9) showed improvement in CAS and CDVA. Susac syndrome is a rare autoimmune vascular endotheliopathy. Treatment of Susac syndrome appears to result in improving CAS and CDVA. The majority of patients, in addition to the systemic steroids, required systemic immunosuppressive agents. Interdisciplinary communication is crucial to reduce the time to diagnosis and initiation of therapy in patients with Susac syndrome.