Sociodemographic and Visual Outcomes of Juvenile Idiopathic Arthritis Uveitis: IRIS® Registry Study.

Purpose: Understanding sociodemographic factors associated with poor visual outcomes in children with juvenile idiopathic arthritis-associated uveitis may help inform practice patterns. Patients and Methods: Retrospective cohort study on patients <18 years old who were diagnosed with both juvenile idiopathic arthritis and uveitis based on International Classification of Diseases tenth edition codes in the Intelligent Research in Sight Registry through December 2020. Surgical history was extracted using current procedural terminology codes. The primary outcome was incidence of blindness (20/200 or worse) in at least one eye in association with sociodemographic factors. Secondary outcomes included cataract and glaucoma surgery following uveitis diagnosis. Hazard ratios were calculated using multivariable-adjusted Cox proportional hazards models. Results: Median age of juvenile idiopathic arthritis-associated uveitis diagnosis was 11 (Interquartile Range: 8 to 15). In the Cox models adjusting for sociodemographic and insurance factors, the hazard ratios of best corrected visual acuity 20/200 or worse were higher in males compared to females (HR 2.15; 95% CI: 1.45-3.18), in Black or African American patients compared to White patients (2.54; 1.44-4.48), and in Medicaid-insured patients compared to commercially-insured patients (2.23; 1.48-3.37). Conclusion: Sociodemographic factors and insurance coverage were associated with varying levels of risk for poor visual outcomes in children with juvenile idiopathic arthritis-associated uveitis.

Diagnostic Role of Oral Fluorescein Angiography in Pediatric Ambulatory Clinics.

Oral ingestion of fluorescein can be done in ambulatory pediatric clinics. We show that oral ultra-widefield fluorescein angiography is a non-invasive approach to rapidly diagnose and manage a diverse set of pediatric retinal vascular diseases.

Hallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty.

PURPOSE: We describe the management of Hallermann-Streiff syndrome in monozygotic female twins with congenital cataracts, exudative retinal detachments, and 1 case of corneal descemetocele with associated dellen and subsequent perforation. METHODS: This study was a case report and review of the literature. RESULTS: Twins 1 and 2 exhibited all 7 cardinal characteristics of Hallermann-Streiff syndrome, presenting with spontaneous lenticular resorption, anterior uveitis, and glaucoma. They underwent bilateral cataract extraction with near total capsulectomy. Both twins experienced recurrent glaucoma, for which twin 1 underwent successful endocyclophotocoagulation in both eyes and twin 2 in the left eye alone. The fellow eye developed 2 sites of perilimbal corneal descemetoceles with associated dellen at the inferotemporal limbal corneal junction leading to spontaneous perforation of 1 site, requiring a full-thickness corneal graft. Both twins developed recurrent bilateral exudative retinal detachments unresponsive to oral prednisolone. Twin 1's last best-corrected visual acuity with aphakic spectacles was 20/260 in the right eye and 20/130 in the left eye at age 4 years and 8 months. Twin 2's last best-corrected visual acuity was 20/130 in each eye at age 4 years and 11 months, over a year after right eye penetrating keratoplasty. CONCLUSIONS: We describe 2 rare cases of Hallermann-Streiff syndrome in monozygotic twins complicated by corneal perforation requiring penetrating keratoplasty in 1 eye of 1 twin. Although corneal opacities have been described in this condition, this is the first case of corneal descemetocele in Hallermann-Streiff syndrome. The cornea was stabilized with a relatively favorable visual outcome over 1 year later.

Erdheim-Chester disease and vemurafenib: a review of ophthalmic presentations and clinical outcomes.

PURPOSE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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.

Referral patterns for infantile cataracts in two regions of the United States.

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.

Microphthalmia and orbital cysts in DiGeorge syndrome.

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.

Choroidal Thickness by Handheld Swept-Source Optical Coherence Tomography in Term Newborns.

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.

Optical coherence tomography findings in Cohen syndrome.

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.

Reversal of severe vergence anomaly associated with convergence insufficiency.

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.

Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.

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.

Utilization of Ophthalmology-Specific Emergency Department Services.

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.

Endophthalmitis Caused by Corynebacterium Species: Clinical Features, Antibiotic Susceptibility, and Treatment Outcomes.

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. SUBJECTS: 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 the endophthalmitis clinical features and treatment outcomes. MAIN OUTCOME MEASURES: presenting clinical features, visual acuity outcomes, and antibiotic susceptibility patterns. RESULTS: 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. CONCLUSIONS: 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.

Persistently Vitreous Culture-Positive Exogenous Fungal Endophthalmitis.

PURPOSE: To report the clinical settings, microbiological isolates, and best-corrected visual acuities (BCVA) of patients with persistently culture-positive exogenous fungal endophthlamitis. DESIGN: Retrospective consecutive case series. METHODS: Setting: Tertiary referral center. PATIENT POPULATION: Sixteen eyes of 16 patients with at least 2 consecutive positive vitreous cultures between 1981 and 2015. INTERVENTIONS: Intravitreal antifungal injection, pars plana vitrectomy (PPV). MAIN OUTCOME MEASURE: Clinical settings, microbiologic isolates, BCVA. RESULTS: The most common clinical settings were after cataract surgery (9/16, 56%), glaucoma surgery (4/16, 25%), and trauma (2/16, 13%). The most common single fungal isolate was Candida (4/16, 25%), but 75% of all isolates were molds. Treatment for presumed bacterial endophthalmitis was given initially in 14 patients (88%). All patients underwent a vitrectomy during the course of their treatment, and all received intravitreal or systemic antifungal therapy. The mean initial BCVA was 1.76 ± 0.9 logMAR (Snellen equivalent ≈20/1200), and the mean final BCVA was 1.84 ± 1.2 logMAR (≈20/1400, P = .83). The 9 patients (56%) who had intraocular lens (IOL) and capsular bag removals had better final BCVAs than those who did not (P = .011). The BCVAs were similar in eyes with yeast and mold (P = .37). The visual acuity at the last follow-up was ≥20/40 in 13% (2/16), ≥20/400 in 50% (8/16), and no light perception in 25% (4/16). CONCLUSIONS: Candida was the single most common isolate, but the majority of isolates were molds. Eyes managed with PPV and removal of the IOL and capsular bag had better visual outcomes. Persistently culture-positive fungal endophthalmitis was associated with poor final visual acuities.

Persistently Vitreous Culture-Positive Exogenous Bacterial Endophthalmitis.

PURPOSE: To report the clinical settings, bacterial isolates, antibiotic sensitivities, and visual acuity outcomes of patients with persistently positive vitreous cultures after intravitreal antibiotics. DESIGN: Consecutive, noncomparative case series. METHODS: setting: Tertiary care center. PATIENT POPULATION: 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. OBSERVATION PROCEDURES: Vitreous cultures with intravitreal injections of antibiotics and pars plana vitrectomies with intravitreal antibiotics. MAIN OUTCOME MEASURES: Bacterial isolates, antibiotic sensitivities, visual outcomes. RESULTS: 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%). CONCLUSIONS: 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.

Purtscher-Like Retinopathy and Diffuse Alveolar Hemorrhage Caused by Soft Tissue Injection for Gluteal Augmentation.

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.

Ventriculoperitoneal shunt as a treatment of visual loss in idiopathic intracranial hypertension.

BACKGROUND: The aims of this study were to evaluate visual function outcomes in idiopathic intracranial hypertension (IIH) patients who underwent ventriculoperitoneal (VP) shunt for visual loss and to determine a VP shunt survival curve over time. METHODS: A retrospective medical record review was performed of all new IIH patients first evaluated at our institution who underwent VP shunt placement over a 7-year period (2004-2010). There were 2 primary outcome measures: the first being visual acuity (VA) and the second being shunt survival. Patients who received VP shunt for visual loss were included in the visual outcome analysis, and all patients who received VP shunt for any reason were included in the shunt survival analysis. RESULTS: Of the 338 new patients with IIH, 19 patients (6%) met the inclusion criteria and 17 underwent VP shunt for visual loss and 2 for headaches. Average follow-up was 21.2 months (range, 5-1,342 days). Of the 17 patients who had VP shunt for visual loss, 5 patients had optic nerve sheath fenestration (ONSF) surgery before VP shunt, and 1 patient had bilateral ONSF surgery after VP shunt. Median VA before shunt was 20/200 in the worse eye (range, 20/20 to NLP) and 20/40 in the better eye (20/20 to HM). Median VA after shunt was 20/60 in the worse eye (20/20 to lumboperitoneal) and 20/30 in the better eye (20/20 to 20/800). The improvement in VA was statistically significant in both worse eyes (P = 0.002, Wilcoxon signed-rank test) and better eyes (P = 0.028). The mean automated visual field (AVF) mean deviation (MD) of available AVFs before shunt was 223.36 dB (range, 233.38 to 27.01 dB) for the worse eye (n = 11) and 219.66 dB (230.11 to 25.91 dB) for the better eye (n = 11). Mean AVF MD deviation of available AVFs after shunt was 220.68 dB (232.13 to 23.97 dB) for the worse eye (n = 11) and 216.35 dB (232.13 to 21.00 dB) for the better eye (n = 11): this improvement was not significant (P = 0.27, P = 0.26, respectively). Independent masked record reviews by 3 neuro-ophthalmologists showed that 9 (53%) patients improved, 5 (29%) unchanged, 1 (6%) worsened, and 2 (12%) were indeterminate. Kaplan-Meier analysis showed a persistent steady decrease of functioning VP shunts over the entire period of 36 months with 80%, 65%, and 48% of VP shunts functioning without replacement, removal, or revision at 12, 24, and 36 months, respectively. CONCLUSION: VP shunts improve or stabilize most IIH patients presenting with severe progressive visual loss or those with visual loss refractive to medical treatment and ONSF. Survival analysis shows persistent decrease of functioning shunts over time.