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We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies.

To provide a comprehensive review of ocular and orbital manifestations of Erdheim-Chester Disease (ECD) and compare clinical outcomes with vemurafenib (INN) to historical treatments (HT). Primary outcomes are ophthalmic findings on presentation, changes in visual acuity, and mortality rate. Secondary outcomes include the progression of ocular findings, systemic involvements, and treatment modalities.All published literature from January 1983 to March 2021 was searched for ophthalmic manifestations of ECD. Clinical outcomes following HT were collected and compared with INN.Forty-seven patients with ECD and ophthalmic presentations were identified. The mean age was 49.6 years (SD = 15.0). Proptosis (65.6%) and extraocular muscle restrictions (42.5%) were the most common presenting signs. Of 41 (87.2%) patients with orbital masses on radiologic examination, 90.2% were bilateral, and 53.7% were located in the intraconal space. Ophthalmic examination was significant for xanthelasma (27.2%), optic disc edema (34.0%), and subretinal changes (21.3%). Common treatments were systemic steroids (76.6%), interferon-α (17.0%), and cyclophosphamide (14.9%). INN was less commonly used (12.8%). The mean change in logMAR visual acuity declined with HT (29.9%) but improved with INN (79.1%) (p 0.05). The proportion of eyes with complete vision loss increased after HT (p 0.05). The overall mortality rate was 27.7% and notably higher in the HT group (29.3%) when compared to the INN group (16.7%) (p 0.05).ECD presents with many ophthalmic manifestations. Although the intraocular treatments remain controversial, INN should be highly considered in treating orbital ECD patients with BRAF-V600E mutations to prevent and reverse vision loss.

BACKGROUND: Delayed treatment of congenital or infantile cataracts can cause deprivation amblyopia. Prompt diagnosis and surgical intervention is critical for optimal outcomes. This study assessed referral patterns for congenital or infantile cataracts in two regions of the United States. METHODS: The medical records of children 0-1 years of age with congenital or infantile cataracts at Stanford University (2008-2018) and Emory University (2010-2015) were reviewed retrospectively. RESULTS: A total of 111 children were included. Of these, 82 (74%) were initially evaluated by a primary care doctor, of whom 40 (49%) were referred directly to a pediatric cataract surgeon. Of 61 newborns 0-2 months of age, 9 (15%) were initially referred to an eye care provider before 6 weeks of age, but the initial evaluation by a pediatric cataract surgeon was delayed until after 6 weeks of age. Referral patterns were similar between the two institutions (P = 0.06). CONCLUSIONS: Many children with congenital of infantile cataracts are initially referred by a primary care doctor to an eye care provider who does not perform pediatric cataract surgery. Nevertheless, the majority of newborn infants with cataracts were evaluated by a pediatric cataract surgeon before 6 weeks of age.

Purpose To describe normative values for choroidal thickness in newborns and characterize their relationship to vitreoretinal features. Methods Term newborns underwent awake, handheld swept-source optical coherence tomography (SS-OCT) in this prospective cohort study. An automated segmentation algorithm followed by manual adjustments measured choroidal thickness at the fovea and five perifoveal locations. Two masked, trained graders, with a third mediating disagreements, analyzed scans for vitreoretinal findings. OCT vitreoretinal findings, including dome-shaped macula, subretinal fluid, punctate hyperreflective vitreous opacities, persistent inner retinal layers, foveal ellipsoid zone, tractional and non-tractional vitreous bands, epiretinal membrane, cystoid macular edema, vessel elevation, scalloped retinal layers, hyporeflective vessels, and retinal spaces, were assessed and correlated with foveal choroidal thickness using a generalized linear mixed model. Results Fifty-nine eyes of 39 infants (mean gestational age, 39.5 weeks; 18 male, 46%) were included. Mean foveal choroidal thickness was 455.5 ± 93.9 µm. Choroid was thinner inferonasally (343.6 ± 106.2 µm) compared to superonasally (368.4 ± 92.9 µm; P = 0.03) and superotemporally (369.6 ± 100.6 µm; P = 0.02). Thinner foveal choroidal thickness was associated with absence of a foveal ellipsoid zone (437.1 ± 78.5 µm vs. 553.7 ± 93.9 µm; P = 0.02). Choroidal thickness was not significantly associated with other OCT findings. Conclusions We identified an association between thinner choroid and foveal immaturity. Additional study is needed to determine whether choroidal development impacts visual outcomes. Translational Relevance Handheld SS-OCT achieved normative measurements for choroidal thickness across the macula in term newborns, providing a foundation for future investigations into the role of choroidal development in infancy.

Purpose: To describe a rare occurrence of acute vision loss and diffuse alveolar hemorrhage following a treatment of injectable gluteal cosmetic filler. Patient and methods: A 20-year-old female underwent a cosmetic injection of unknown components for gluteal augmentation. Within hours she developed progressive shortness of breath secondary to diffuse alveolar hemorrhage. She presented to ophthalmology 6 weeks later with a history of bilateral decreased vision. Clinical examination revealed cotton wool spots and retinal hemorrhages. Fluorescein angiography demonstrated macular vascular pruning and an enlarged foveal avascular zone. Results: The patient was observed and vision did not improve after 8 months of follow-up. Conclusion: These findings were attributed to a Purtscher-like retinopathy secondary to systemic inflammation induced by the filler and/or direct microembolization of the injected material or fat. To the best of the authors’ knowledge, this is the first documented case of diffuse alveolar hemorrhage and ischemic bilateral vision loss in a patient undergoing gluteal augmentation with dermal filler.

Central disruption of fusion refers to a subject's inability to fuse images, resulting in constant diplopia. Severely reduced vergences, or vergence anomalies, producing markedly decreased fusional amplitudes resembling fusional disruption have not been reported previously with convergence insufficiency. We report 3 patients with severe vergence anomalies in the setting of convergence insufficiency.

Cohen syndrome is a rare disease that causes myopia and retinal degeneration in the setting of developmental delay and characteristic craniofacial features. We report optical coherence tomography (OCT) abnormalities in 4 patients with Cohen syndrome, 2 of whom have longitudinal follow-up. All subjects had schisis-like changes, with cystoid spaces in the inner retina as well as diffuse outer retinal atrophy sparing the subfoveal region. Ophthalmologic findings in 1 patient led to the work-up that resulted in a diagnosis of Cohen syndrome, suggesting that characteristic retinal abnormalities visualized by fundus examination and OCT may represent distinguishing features of this syndrome.

Purpose: We report a patient with severe multi-organ dysfunction of unknown origin who presented with bilateral orbital and chorioretinal manifestations that led to the diagnosis of Erdheim-Chester Disease (ECD). Observations: ECD is a rare, histiocytic, proliferative disorder characterized by multi-systemic organ involvement that has historically lacked effective therapy. Our patient underwent genetic testing that was positive for the BRAF V600E mutation; therefore, the patient was treated with vemurafenib. Conclusions and importance: This case demonstrates the rare orbital and intraocular manifestations of ECD and the unfortunate impact of a delayed diagnosis, the importance of early gene therapy testing for management decisions, and the utilization of targeted directed therapy to improve visual outcomes and quality of life. Keywords: Histiocytosis, Vemurafenib, Orbital, Chorioretinal, Xanthomatous, Lipogranulomatous, BRAF

Purpose To report the clinical features, antibiotic susceptibility profiles, treatment, and visual acuity (VA) outcomes of endophthalmitis caused by Corynebacterium species. Design Retrospective case series. Participants Patients with endophthalmitis caused by Corynebacterium species. Methods Microbiology database records were retrospectively reviewed for all patients with endophthalmitis caused by Corynebacterium species from January 1, 1990, to December 31, 2012, at a large university referral center. The corresponding clinical records were then reviewed to evaluate endophthalmitis clinical features and treatment outcomes. Main Outcome Measures Presenting clinical features, visual acuity outcomes, and antibiotic susceptibility patterns. Results For the 10 patients identified, clinical settings included post–cataract surgery (n = 6), post–penetrating keratoplasty (n = 2), and posttrabeculectomy (n = 2). The mean time from surgical procedure to presentation with endophthalmitis was 6.8 months (range: 1 day to 28 months). All isolates were susceptible to vancomycin. Presenting VA ranged from 7/200 to no light perception. Initial treatment strategies were vitreous tap and intravitreal antibiotic injection (n = 5) and pars plana vitrectomy with intravitreal antibiotic injection (n = 5). VA outcomes were ≥20/60 in 5 of 10 patients (50%) and ≤20/400 in 5 of 10 patients (50%). Conclusions The most common clinical setting was post–cataract surgery. All isolates were susceptible to vancomycin. Despite prompt treatment with appropriate antibiotics, visual outcomes varied.

To report the clinical settings, bacterial isolates, antibiotic sensitivities, and visual acuity outcomes of patients with persistently positive vitreous cultures after intravitreal antibiotics.Consecutive, noncomparative case series.setting: Tertiary care center.Thirty-six eyes of 36 patients with exogenous endophthalmitis with the same bacterial organism identified on at least 2 consecutive vitreous cultures from 1981 to 2015.Vitreous cultures with intravitreal injections of antibiotics and pars plana vitrectomies with intravitreal antibiotics.Bacterial isolates, antibiotic sensitivities, visual outcomes.Thirty-six eyes of 36 patients met the study criteria. The mean follow-up was 26.5 months. The most common clinical settings were after cataract extraction (18/36, 50%) and glaucoma surgery (11/36, 31%). The mean initial visual acuity was 2.16 ± 0.77 logMAR (Snellen equivalent ≈20/2900), and there was no statistically significant change at the final evaluation (2.08 ± 0.97 logMAR, ≈20/1900, P = .72). The most common bacteria were Staphylococcus (11/36, 31%) and Streptococcus (9/36, 25%). Gram-positive bacteria were sensitive to vancomycin (27/27, 100%); gram-negative bacteria were sensitive to amikacin (5/5, 100%). The antibiotic sensitivities were the same on repeat cultures in 34 of 36 patients (94%). The initial treatment was a vitreous culture and intravitreal injection of antibiotics in 28 of 36 patients (78%). The vision at the last follow-up was 20/200 or better in 12 patients (33%) and no light perception in 11 of 36 patients (31%).The most commonly identified organisms were gram-positive bacteria. There was good concordance in the antibiotic sensitivities between initial and subsequent cultures. Patients with persistently vitreous culture-positive endophthalmitis had poor visual outcomes.

To report the clinical features, antibiotic susceptibility profiles, treatment, and visual acuity (VA) outcomes of endophthalmitis caused byRetrospective case series.Patients with endophthalmitis caused byMicrobiology database records were retrospectively reviewed for all patients with endophthalmitis caused bypresenting clinical features, visual acuity outcomes, and antibiotic susceptibility patterns.Of 10 patients identified, clinical settings included post-cataract surgery (n = 6), post-penetrating keratoplasty (n = 2), and post-trabeculectomy (n = 2). The mean time from surgical procedure to presentation with endophthalmitis was 6.8 months (range: 1 day to 28 months). All isolates were vancomycin susceptible. Presenting VA ranged from 7/200 to no light perception. Initial treatment strategies were vitreous tap and intravitreal antibiotic injection (n = 5) and pars plana vitrectomy with intravitreal antibiotic injection (n = 5). VA outcomes were ≥ 20/60 in 5 (50%) of 10 patients and ≤ 20/400 in 5 (50%) of 10 patients.The most common clinical setting was post-cataract surgery. All isolates were susceptible to vancomycin. Despite prompt treatment with appropriate antibiotics, there were variable visual outcomes.

OBJECTIVE To describe utilization trends of an ophthalmology-specific emergency department (ED). METHODS Prospective cohort study of new patients presenting in the ophthalmology ED for at least a 30-day period in the spring of each year for five consecutive years (2010-14) at a university referral center. A data form, including information about the ED visit and patient demographics, was included in each patient chart. Data were analyzed with Pearson chi-square test and multiple logistic regression. RESULTS A total of 5323 chart data forms were completed. An average of 42.2 new patients per day presented to the ophthalmology ED. Most common diagnoses were viral conjunctivitis (8.7%), dry eye syndrome (6.6%), and corneal abrasion (6.6%). Non-emergent visits accounted for 35.8% of surveys completed. Factors associated with non-emergent visits included female gender, age 65 years or older, weekday visits, and patient symptom duration greater than one week (p < 0.0001 for each factor). When compared to all other insurance categories combined, patients who were members of the regional public assistance program were the most likely to present with a non-emergency (48.5% versus 34.9%, p < 0.001), while Workers' Compensation patients were least likely to present with a non-emergency (16% versus 36.5%, p < 0.001). CONCLUSIONS Over one-third of new patient visits were non-emergent. Factors predictive of non-emergent patient visits were female gender, age 65 years or older, duration of symptoms greater than one week, weekday visits, and the form of insurance coverage.

Purpose To develop an automated method of localizing and discerning multiple types of findings in retinal images using a limited set of training data without hard-coded feature extraction as a step toward generalizing these methods to rare disease detection in which a limited number of training data are available. Methods Two ophthalmologists verified 243 retinal images, labeling important subsections of the image to generate 1324 image patches containing either hemorrhages, microaneurysms, exudates, retinal neovascularization, or normal-appearing structures from the Kaggle dataset. These image patches were used to train one standard convolutional neural network to predict the presence of these five classes. A sliding window method was used to generate probability maps across the entire image. Results The method was validated on the eOphta dataset of 148 whole retinal images for microaneurysms and 47 for exudates. A pixel-wise classification of the area under the curve of the receiver operating characteristic of 0.94 and 0.95, as well as a lesion-wise area under the precision recall curve of 0.86 and 0.64, was achieved for microaneurysms and exudates, respectively. Conclusions Regionally trained convolutional neural networks can generate lesion-specific probability maps able to detect and distinguish between subtle pathologic lesions with only a few hundred training examples per lesion.

Awoman in her 30s presentedwith a 3-month history of bilateral blurry vision with transient visual obscurations and a 1-month history of tinnitus. Funduscopic examination findings were concerning for bilateral optic disc edema, which was worse in the right eye compared with the left (Figure 1). Magnetic resonance imaging of thebraindemonstratedmultiple cysts in theposterior fossa, including a large cyst inducing obstructive hydrocephalus at the level of the fourthventriclemeasuring1.2cm × 1.6cminanteroposteriorand transverse dimensions (Figure 2). She underwent emergent suboccipital craniotomy with removal of the cysts and placement of a temporary external ventricular catheter. Cerebrospinal fluid analysis results revealed no protein, white blood cells, or organisms. Surgical pathology confirmed the diagnosis of neurocysticercosis. The patient was treated for 14 days with 400mg twice daily of albendazole by mouth along with intravenous dexamethasone, 2 mg, twice daily followed by a rapid oral corticosteroid taper. Follow-up cerebrospinal fluid analysis results revealed rare white blood cells, no protein, and no organisms. Twomonths later, the patient presentedwith continued blurry vision and bilateral sixth nerve palsies and required ventriculoperitoneal shunt placement owing to a communicating hydrocephalus. At follow-up, the patient had resolution of all visual symptoms. Follow-up magnetic resonance imaging demonstrated reduction in size of the culprit cyst to 0.5 cm × 0.8 cm in anteroposterior and transverse dimensions.