Faculty Bibliography

PURPOSE/UNASSIGNED:Race disparities in the healthcare system and the resulting inequality in clinical data among different races hinder the ability to generate equitable prediction results. This study aims to reduce healthcare disparities arising from data imbalance by leveraging advanced transfer learning (TL) methods. METHOD/UNASSIGNED:We examined the ophthalmic healthcare disparities at a population level using electronic medical records data from a study cohort (N = 785) receiving care at an academic institute. Regression-based TL models were usesd, transferring valuable information from the dominant racial group (White) to improve visual field mean deviation (MD) rate of change prediction particularly for data-disadvantaged African American (AA) and Asian racial groups. Prediction results of TL models were compared with two conventional approaches. RESULTS/UNASSIGNED:Disparities in socioeconomic status and baseline disease severity were observed among the AA and Asian racial groups. The TL approach achieved marked to comparable improvement in prediction accuracy compared to the two conventional approaches as evident by smaller mean absolute errors or mean square errors. TL identified distinct key features of visual field MD rate of change for each racial group. CONCLUSIONS/UNASSIGNED:The study introduces a novel application of TL that improved reliability of the analysis in comparison with conventional methods, especially in small sample size groups. This can improve assessment of healthcare disparity and subsequent remedy approach. TRANSLATIONAL RELEVANCE/UNASSIGNED:TL offers an equitable and efficient approach to mitigate healthcare disparities analysis by enhancing prediction performance for data-disadvantaged group.

BACKGROUND:The prevalence of body dysmorphic disorder (BDD) in the general population ranges from 0.7 to 2.4%; however, higher rates are seen among aesthetic patients. Given the recent rise in popularity of cosmetic surgery, particularly in the post-COVID pandemic setting, the authors hypothesize the prevalence has increased. The purpose of the study is to examine the prevalence of BDD in patients presenting to an oculoplastic surgery clinic at an academic center and determine correlation with social media use. METHODS:This is a survey of patients presenting to the oculoplastic surgery clinic. Participants completed the Dysmorphic Concern Questionnaire (DCQ), in addition to survey questions about social media use. Main outcomes included a positive screen and social media use. RESULTS:A total of 175 patients that presented to the oculoplastic and reconstructive surgery clinic were surveyed. All patients, including cosmetic, functional, and non-surgical, were offered participation in the survey. 9.13% of all patients screened positive for BDD. Patients that screened positive were more commonly female (71.43%). The distribution of patients with BDD was even between Hispanics (52.38%) and non-Hispanics, and 85.71% of patients with BDD were Caucasian. Of patients that screened positive, 71.43% use social media. CONCLUSIONS:The prevalence of BDD may have increased in the past seven years and is seen most in females and Caucasians. There is a positive correlation with social media, which has increased in popularity since the COVID-19 pandemic. It is important to maintain a high clinical suspicion for BDD and consider screening if there is concern. LEVEL OF EVIDENCE IV/METHODS:This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Topical glaucoma medications are effective and safe, but they have numerous well-documented limitations that diminish their long-term utility and sustainability. These limitations can include high rates of nonadherence (with associated glaucoma progression), concerning side effects, inconsistent circadian intraocular pressure (IOP) control, complex dosing regimens, difficulty with self-administration, costs, and decreased quality of life. Despite these limitations, topical medications traditionally have been first-line in the glaucoma treatment algorithm, as no other minimally invasive treatment alternatives existed. In recent years, however, novel interventional therapies-including sustained-release drug-delivery platforms, selective laser trabeculoplasty, and micro-invasive glaucoma surgery procedures-have made it possible to intervene earlier without relying on topical medications. As a result, the topical medication-first treatment approach is being reevaluated in an overall shift toward earlier more proactive interventions.

PURPOSE/UNASSIGNED:We present a case of a 10-year-old boy with Crouzon syndrome that demonstrates progressive myelinated retinal nerve fibers (MRNF). OBSERVATIONS/UNASSIGNED:A 10-year-old boy was referred for ophthalmic examination due to clusters of opaque white fibers around his optic nerve. Past surgical history includes craniofacial surgery at 3 years of age secondary to the deteriorating vision from increased intracranial pressure and papilledema. Upon examination (now 6.5 years post-craniofacial surgery), the patient denied any ocular complaints. The fundus examination showed progressively enlarged myelination of the retinal nerve fiber layer (right eye > left eye). Although previous cases of MRNF with Crouzon syndrome have been reported, our case is unique given its post-operative status with early onset of MRNF. CONCLUSION AND IMPORTANCE/UNASSIGNED:This case report documents the photographic progression of bilateral myelinated retinal nerve fibers (MRNF) in a pediatric case of Crouzon syndrome post-craniofacial surgery secondary to increased intracranial pressure and papilledema. Based on our patient, craniofacial decompression surgery may not prevent the development of MRNF. The exact mechanisms of MRNF are still being studied. Further investigations correlating craniofacial surgeries, increased intracranial pressure, and progression of myelinated retinal nerve fibers are needed to understand this process.

OBJECTIVE:One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. METHODS:This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. RESULTS:Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p < 0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p < 0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P < 0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p = 0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P < 0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p = 0.008). CONCLUSIONS:High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.

PURPOSE/UNASSIGNED:Although the outer nuclear layer (ONL) and outer plexiform layer (OPL) each exhibit a complex internal organization, near-infrared OCT depicts both as monolithic bands. Here, using visible light OCT in the C57BL/6J mouse retina, sublaminar age-related changes in photoreceptor features were imaged and interpreted. These features were (1) oscillations in reflectivity, or striations, in the ONL and (2) a moderately reflective subband in the OPL. DESIGN/UNASSIGNED:Cross-sectional study. PARTICIPANTS/UNASSIGNED:Pigmented mice (C57BL/6J, n = 14). METHODS/UNASSIGNED:A 1.0-μm axial resolution visible light spectral/Fourier domain OCT system was used for in vivo retinal imaging. Light and electron microscopy were performed ex vivo. Linear mixed effects models or regression were employed for statistical analysis. MAIN OUTCOME MEASURES/UNASSIGNED:Comparison of OCT subbands with corresponding histological features, as well as quantification of subband thickness and reflectivity. RESULTS/UNASSIGNED:Corresponding histological comparisons confirm that striations in the ONL arise from the rowlike arrangement of photoreceptor nuclei and reveal that the moderately reflective OPL subband arises from rod spherules. Compression of outer ONL striations with age suggests changes in soma organization. Thinning of the moderately reflective OPL subband with age supports a reduction of synapses in the OPL. Critically, the ONL somas are tightly correlated with the purported spherule layer but not with the rest of the OPL. CONCLUSIONS/UNASSIGNED:Visible light OCT imaging of the mouse OPL resolves postsynaptic and synaptic differences. Visible light OCT can study rod photoreceptor changes from the soma to the synapse in the living mouse retina. FINANCIAL DISCLOSURES/UNASSIGNED:Proprietary or commercial disclosure may be found after the references.

PURPOSE/UNASSIGNED:To report panuveitis with exudative retinal detachments in a healthy 27-year-old woman with biallelic mutations in the RPE65 gene, who underwent bilateral sequential gene therapy with subretinal administration of voretigene neparvovec-rzyl. OBSERVATIONS/UNASSIGNED:Visual acuity improved for 30 days after surgery as oral corticosteroids were tapered. At postoperative week 6, vision declined due to sudden onset uveitis and exudative retinal detachments in both eyes. HLA Class II typing revealed the haplotype associated with sympathetic ophthalmia and Vogt-Koyanagi-Harada (VKH). The inflammation improved after corticosteroid, mycophenolate mofetil, and adalimumab therapy while vision remained poor. CONCLUSIONS AND IMPORTANCE/UNASSIGNED:Surgically-induced sympathetic ophthalmia is a plausible explanation for the clinical findings; surgery of both eyes within one week would conceal the inciting eye. VKH or inflammation related to the gene therapy are other possible etiologies but severe bilateral panuveitis has not been reported with voretigene neparvovec-rzyl. Informed consent for gene therapy surgery should include a discussion of the rare complication of sympathetic ophthalmia following vitrectomy surgery.