Faculty Bibliography
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Foveal Development and Posterior Precortical Vitreous Pocket Formation
PMCID:10125119
PMID: 37068222
ISSN: 1539-2864
CID: 5464842
En face ultra-widefield optical coherence tomography of the vortex vein system in central serous chorioretinopathy
PURPOSE/OBJECTIVE:To investigate whether non-invasive en face ultra-widefield (UWF) optical coherence tomography (OCT) can demonstrate salient features of the choroidal vasculature in eyes with central serous chorioretinopathy (CSC). DESIGN/METHODS:Retrospective observational case series. PARTICIPANTS/METHODS:Patients diagnosed with CSC who underwent UWF indocyanine green angiography (ICGA) and widefield OCT imaging were included. METHODS:Widefield OCT imaging was performed with a horizontal 23 mm x vertical 20 mm field of view of 5 visual fixations (1 central and 4 peripheral fixations) to compose structural en face UWF OCT montage images and UWF choroidal thickness maps. Automated image alignment was performed prior to grading. MAIN OUTCOME MEASURES/METHODS:A comparison of choroidal vascular findings seen with UWF ICGA and en face UWF OCT images including size and distribution of choroidal venous drainage areas and identification of dilated choroidal veins ("pachyvessels") crossing the physiological choroidal watershed zones. Spatial correlation between choroidal vascular hyperpermeability (CVH) on UWF ICGA images and areas of choroidal thickening (ACT) on UWF choroidal thickness maps was determined. RESULTS:Forty-two eyes from 27 CSC patients with a mean age of 56 ±12 years (range, 31 to 77 years) were included. Quantitative measures of vortex vein drainage areas on en face UWF OCT images were significantly and positively correlated with those obtained with UWF ICGA (mean Pearson r=0.825, P < 0.01). Identification of pachyvessels crossing the choroidal watershed zones showed an excellent correlation between UWF ICGA and en face UWF OCT images (mean Spearman Ï= 0.873, P < 0,01). In all cases, CVH observed on UWF ICGA spatially co-localized with ACT on the UWF choroidal thickness map. Congestion within the entire drainage area of the dominant vortex systems was observed on UWF choroidal thickness maps. CONCLUSIONS:In eyes with CSC, non-invasive en face UWF OCT imaging can show distinctive features of choroidal venous insufficiency previously identified with UWF ICGA. UWF OCT choroidal thickness maps enable quantitative assessment of choroidal congestion.
PMID: 36228952
ISSN: 2468-6530
CID: 5361102
New insights into the genetic etiology of Alzheimer's disease and related dementias
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
PMCID:9005347
PMID: 35379992
ISSN: 1546-1718
CID: 5213092
Ultra-Widefield Indocyanine Green Angiography Reveals Patterns of Choroidal Venous Insufficiency Influencing Pachychoroid Disease
Purpose/UNASSIGNED:To compare patterns of choroidal venous drainage in eyes with pachychoroid disease to those of healthy subjects using ultra-widefield indocyanine green angiography (UWF ICGA). Methods/UNASSIGNED:Patients with pachychoroid disease and healthy controls were recruited at two referral centers. UWF ICGA images were used to evaluate the proportion of the postequatorial fundus drained by major vortex vein systems in each quadrant and to study the incidence and topography of choroidal vascular hyperpermeability (CVH) and intervortex venous anastomoses. Widefield swept-source optical coherence tomography (SS-OCT) was used to evaluate choroidal thickness at the posterior pole in eyes with pachychoroid disease. Results/UNASSIGNED:Fifty-two pachychoroid eyes and 26 healthy eyes were evaluated. Eyes with pachychoroid disease showed a significant within-subject variance in the proportion of the postequatorial fundus drained by each vortex vein system (range, 4.1%-48.1%; P < 0.0001) that was not seen in controls (range, 17.3%-31.7%; P = 0.11). CVH was present in all pachychoroid disease eyes and three of 26 controls. Intervortex venous anastomoses were present in 46 of 52 pachychoroid disease eyes and nine of 26 control eyes. Vortex vein systems with large drainage areas showed greater density of CVH spots. SS-OCT demonstrated asymmetric choroidal drainage in the macula of 59% of pachychoroid eyes. CVH and intervortex venous anastomoses were more prominent in areas showing maximal choroidal thickness. Conclusions/UNASSIGNED:In eyes with pachychoroid disease, imbalanced choroidal venous drainage with congestion of specific vortex vein systems may contribute to a state of choroidal venous insufficiency characterized by regional choroidal thickening, CVH and remodeling of venous drainage routes.
PMID: 35019945
ISSN: 1552-5783
CID: 5118762
CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up
INTRODUCTION/BACKGROUND:We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. CASE PRESENTATION/METHODS:We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15Â years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology. In addition, we demonstrate the wide phenotypic spectrum of the condition with the affected sister harboring the same variants but with much milder phenotypic manifestations. CONCLUSION/CONCLUSIONS:In addition to a previously described pathogenic variant, Ile167_Gly169del, one pathogenic missense variant in CRB1, Lys801Ter, not previously associated with macular dystrophy, is reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy with initial features similar to fenestrated sheen macular dystrophy (FSMD) that later evolves into severe macular atrophy.
PMID: 33387055
ISSN: 1573-2622
CID: 4759252
Glaucoma Care of Prison Inmates at an Academic Hospital
Importance/UNASSIGNED:Glaucoma care for prison inmates is underrepresented in the literature even though managing the treatment of such patients may provide unique challenges. Objectives/UNASSIGNED:To evaluate the glaucoma profile of prison inmates treated at an academic ophthalmology center and to report on the medical and surgical management and follow-up metrics. Design, Setting, and Participants/UNASSIGNED:This retrospective cohort study assessed data from 82 incarcerated patients treated at the glaucoma clinic, an academic referral center at the University of Illinois at Chicago, between January 2013 and December 2017. Main Outcomes and Measures/UNASSIGNED:Diagnosis, glaucoma severity, medical and surgical interventions, and patient-reported medication adherence were recorded for each visit. Recommended and actual follow-up times were recorded and compared. Data analyses were conducted from January 2013 to December 2018. Results/UNASSIGNED:In total, 82 patients (161 eyes) had 375 visits during the study period. All patients were male and ranged from 20 to 75 years of age (mean [SD] age, 50.8 [11.9] years). Most participants were black patients (65 [79.3%]). The most common diagnoses were primary open-angle glaucoma (POAG; 53 eyes [32.9%]) and POAG suspect (52 eyes [32.3%]). Glaucoma severity ranged from mild (25 of 77 eyes [32.5%]) to advanced (41 of 77 eyes [53.2%]). Overall, 59 patients (73.2%) were treated medically with up to 4 topical agents (40.0%). Of those treated, 70.0% of patients (95% CI, 57.7%-81.2%) reported medication nonadherence during at least 1 visit. Medication nonadherence was more common among those taking 4 different topical medications (21 of 24 [87.5%]) compared with others taking fewer medications (20 of 35 [57.1%]), for a difference of 30.4% (95% CI, 7.0%-53.6%; P = .02), and among those with advanced disease (22 of 26 [84.6%]) compared with glaucoma suspect (6 of 13 [46.2%]), for a difference of 38.4% (95% CI, 9.3%-67.5%; P = .02). Nineteen office procedures, including laser peripheral iridotomy and laser trabeculoplasty, were performed on 14 eyes. Seventeen incisional glaucoma procedures were performed on 15 eyes, including glaucoma drainage device implant (11 procedures [64.7%]) and trabeculectomy (3 procedures [17.6%]). Only 26.6% of return office visits (95% CI, 21.3%-32.3%) occurred within the recommended follow-up time frame. Furthermore, 93 patients (34.8%; 95% CI, 28.2%-40.0%) were seen more than 1 month after the recommended follow-up. Conclusions and Relevance/UNASSIGNED:Despite incarceration in prison, where medication administration and appointment attendance are theoretically controlled, the results of this study suggested that substantial medication and follow-up nonadherence exists among inmates.
PMCID:7042904
PMID: 32077908
ISSN: 2168-6173
CID: 4507382
Scleral lens for severe dry eye status post lacrimal gland resection for adenoid cystic carcinoma [Case Report]
Purpose/UNASSIGNED:Scleral contact lenses (SCLs) are devices that allow a fluid reservoir between the contact lens and the cornea, providing both improved lubrication and refraction. Consequently, SCLs have been used for significant refractive error in addition to a wide range of ocular surface diseases. We present the first case of a woman who complained of severe dryness and pain following resection of an adenoid cystic carcinoma of her lacrimal gland with complete resolution of her symptoms with a SCL. Observations/UNASSIGNED:A woman who complained of severe dryness and pain following resection of an adenoid cystic carcinoma of her lacrimal gland presented to the ophthalmology clinic. She had no subsequent lacrimal function without relief from conventional dry eye treatments. However, early treatment with a SCL successfully preserved her ocular surface, improved her corneal staining pattern, and improved her vision. Conclusions and Importance/UNASSIGNED:While other options exist, including permanent tarsorrhaphy, lid taping, or moisture goggles, the SCL allowed the combination of cosmesis, visual function, and ocular surface rehabilitation.
PMCID:6997807
PMID: 32025591
ISSN: 2451-9936
CID: 4507372
Self-insertion of foreign bodies into the orbit and periocular tissue [Case Report]
We describe six patients with 12 separate episodes of self-inflicted periocular foreign body injuries, which presented to our institution recently. All patients were male, relatively young (mean 28.5Â years old), incarcerated, and had significant underlying psychiatric conditions. The subjects had inserted staples (6), paperclips (2), or other small metallic wire segments (4) into the periocular region. Most cases (9/12) involved concurrent self-inflicted injury to other body parts. Ten cases involved foreign bodies inserted through the palpebral conjunctiva into the upper eyelid, while two cases involved insertion into the orbit. Identification and surgical retrieval of foreign bodies was successful in most cases (9/11) but was not attempted in one case. Self-inflicted periocular injuries, while rare, are challenging cases for which the ophthalmologist should be prepared. A multidisciplinary approach, including psychiatric assessment and treatment, is important for optimal care.
PMCID:6586531
PMID: 30570433
ISSN: 1744-5108
CID: 4507242
A Woman With Bilateral Retinal Detachments
PMID: 31486836
ISSN: 2168-6173
CID: 4507362
An 81-Year-Old Man With Multifocal Choroidal Lesions
PMID: 31415082
ISSN: 2168-6173
CID: 4507342
