CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.

INTRODUCTION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. CASE PRESENTATION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15 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: 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.

Self-insertion of foreign bodies into the orbit and periocular tissue.

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 28.5 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.

Sudden-onset Blindness from a Spontaneous Carotid-cavernous Fistula with Secondary Central Retinal Artery Occlusion and Posterior Ischemic Optic Neuropathy.

Our case describes a patient diagnosed with a carotid-cavernous fistula (CCF) secondary to a spontaneously ruptured cavernous carotid aneurysm, presenting with sudden vision loss, and a concomitant central retinal artery occlusion as visualized by a cherry-red spot in the macula and posterior ischemic optic neuropathy. Computed tomography of the brain and orbits showed mild hydrocephalus, orbital fat haziness, and proptosis with concern for fluid in the basal cisterns. Cerebral angiography confirmed the suspected diagnosis of CCF. After angiography, a Magnetic resonance imaging of the brain demonstrated abnormal diffusion restriction in the posterior right optic nerve confirmed on the apparent diffusion coefficient map, consistent with ischemia of the optic nerve in this location. Two weeks after discharge, outpatient fundus photography showed resolution of her cherry-red spot, and optical coherence tomography showed thinning of the entire retinal nerve fiber layer as compared to the contralateral eye. In CCFs, congestive symptoms of proptosis, pain, and even central retinal vein occlusion findings are frequently described. However, our patient's no light perception vision and imaging findings suggest associated central retinal artery occlusion and ischemic optic neuropathy. These findings underscore the multitude of serious visual effects of high flow CCFs.

Angular Vein Varix Congestion From Chronic Glasses Wear.

This is a case report of a symptomatic varicose angular vein exacerbated by chronic glasses wear. Compressing the vein in a recumbent position led to increased fullness of the medial canthal region and reproduced his symptoms. Obliteration by cauterization of the vein led to resolution of symptoms.

Initial Real-World Experience with Faricimab in Treatment-Resistant Neovascular Age-Related Macular Degeneration.

Purpose: To evaluate the initial efficacy and safety of intravitreal faricimab in eyes previously treated for neovascular age-related macular degeneration (nARMD). Patients and methods: A retrospective review of all patients with nARMD previously treated with anti-vascular endothelial growth factor (anti-VEGF) injections who received at least 3 intravitreal faricimab injections with at least 3 months of follow-up. Results: A total of 190 eyes were included. Patients received a mean of 34.2±23 anti-VEGF injections over 182.41±128 weeks prior to switching to faricimab. Patients then received a mean of 6.99±2.3 faricimab injections with an average 34.88±8.2 weeks of follow-up. The mean best corrected visual acuities improved from 0.33±0.32 logMAR ≈20/43 to 0.27±0.32 logMAR ≈20/37 (P=0.0022). The central subfield thickness (CST) improved from 312±87µm to 287±71µm (P<0.0001). At the last clinical visit, 24% had no subretinal fluid or intraretinal fluid on optical coherence tomography. The mean dosing interval between the last two consecutive faricimab injections (7.64±6.2 weeks) was significantly longer than that for ranibizumab (5.16±2.0 weeks, P<0.001) or aflibercept (5.57±3.6 weeks, P<0.001). No patients developed idiopathic intraocular inflammation. Conclusion: Intravitreal faricimab was associated with improved vision and CSTs, even in treatment-resistant nARMD eyes. The mean last dosing interval for faricimab was longer than for ranibizumab or aflibercept. No significant adverse events were directly attributed to faricimab during the study.

Ultra-Widefield Indocyanine Green Angiography Reveals Patterns of Choroidal Venous Insufficiency Influencing Pachychoroid Disease.

Purpose: 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: 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: 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: 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.

Outcomes of Repository Corticotropin Gel for Ocular Sarcoidosis.

PURPOSE: To evaluate the utility and side effect profile of subcutaneous repository corticotropin gel (RCI) in ocular sarcoidosis. METHODS: Retrospective chart review. RESULTS: Among six identified patients on RCI therapy, 4 had uveitis, one had optic neuritis and one had uveitis and optic neuritis secondary to sarcoidosis. The average follow-up was 43.5 months. RCI therapy was continuous in 4 patients (average 7.7 months) and intermittent in 2 patients (24 and 12 months). Five of the 6 patients continued with local and/or systemic corticosteroids for ocular inflammation control while on RCI therapy.  Two-thirds of patients experienced adverse effects including hyperpigmentation, alopecia, and severe hypertension. RCI therapy was discontinued in 5 of the 6 patients due to continued inflammation and side/adverse effects (4 patients) and loss of follow-up (1 patient). CONCLUSION: In this small cohort, the majority of patients failed to achieve adequate steroid-sparing ocular inflammation control and experienced side effects while on RCI therapy. Additional studies are needed to elucidate the role of RCI in ocular inflammation.

Glaucoma Care of Incarcerated Patients at an Academic Institution: A Case-Control Study.

PURPOSE: To evaluate medication and follow-up adherence in incarcerated patients examined at an academic glaucoma clinic, in comparison to nonincarcerated controls. METHODS: Retrospective, case-control study. Consecutive prisoners presenting for initial visits in the Glaucoma Clinic at the Illinois Eye and Ear Infirmary between December 2015 and December 2017 were included in the study. Nonincarcerated patients seen in the same Glaucoma Clinic with similar initial visit dates, age, race, sex, and disease severity were selected as controls. Glaucoma Clinic visits from each patient were reviewed until December 2018. Examination information, surgical intervention, follow-up and treatment recommendations, and patient-reported medication usage were recorded for each visit. Number of visits, loss to follow-up, follow-up delays, and medication nonadherence were studied as primary outcome measures. RESULTS: Twenty-four prisoners and 24 nonincarcerated controls were included. Prisoners had an average of 2.46 ± 2.38 visits during the study period, compared to 5.04 ± 3.25 for controls (P = 0.001). Follow-up visits occurred more than 30 days after the recommended follow-up time in 57.4% (95% confidence interval [CI]: 44.2%-70.6%) of prisoners, compared to 17.9% (95% CI: 10.2%-25.6%) of controls (P < 0.00001). 70.8% of prisoners (95% CI: 66.3-74.5%) were lost to follow-up, compared to 29.2% of controls (95% CI: 25.5%-32.9%; P < 0.01). Medication nonadherence rates were similar between prisoners (13.6%; 95% CI: 12.1%-15.2%) and controls (12.0%; 95% CI: 11.4%-12.6%; P = 0.78). CONCLUSIONS: Glaucoma follow-up adherence was significantly worse in prisoners compared to a nonincarcerated control population. Further study into causative factors is needed.

Scleral lens for severe dry eye status post lacrimal gland resection for adenoid cystic carcinoma.

PURPOSE: 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: 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: 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.

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients.

We report two unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations. In addition to a previously-described pathogenic variant, Ile167_Gly169del, two new pathogenic missense variants in CRB1, Thr745Met, and Cys948Tyr are reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber's congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy whose initial features can resemble juvenile X-linked retinoschisis (JXLRS). We show that the accompanying macular edema is responsive to carbonic anhydrase inhibitors. With long-term follow-up for each case, we illustrate the natural history of CRB1 maculopathy based on clinical examination and diagnostic imaging.

Glaucoma Care of Prison Inmates at an Academic Hospital.

Importance: Glaucoma care for prison inmates is underrepresented in the literature even though managing the treatment of such patients may provide unique challenges. Objectives: 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: 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: 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: 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: 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.

Outcomes of 25-gauge vitrectomy with relaxing retinectomy for retinal detachment secondary to proliferative vitreoretinopathy.

PURPOSE: The aim of this study is to evaluate visual and anatomic outcomes of 25-gauge vitrectomy with relaxing retinectomies for complex retinal detachment (RD) secondary to proliferative vitreoretinopathy (PVR). METHODS: A single-center, retrospective case series of 44 patients who had undergone a 25-gauge vitrectomy with a relaxing retinectomy for the treatment of combined RD and PVR was performed. Pre-operative characteristics, intraoperative techniques, and outcomes were analyzed. The rates of attachment, complications, and visual acuity were analyzed. Institutional Review Board/Ethics Committee approval was obtained and the described research adhered to the tenets of the Declaration of Helsinki. RESULTS: At the final follow-up, 27 eyes (61%) had attachment after one surgery, 41 eyes (93%) ultimately had attached retinas, 3 eyes (7%) had hypotony, 3 eyes had become phthisical (7%), and 24 eyes (56%) had improved visual acuity. After stratifying by visual outcomes, 20/400 or better BCVA was not associated with age (p=0.66), RD etiology (p=0.61), pre-operative hypotony (p=0.60), nor size of retinectomy (p=0.48). Patients achieving 20/400 vision or better were statistically more likely to be pseudophakic (p=0.024) and have silicone oil removal (p<0.0001). CONCLUSIONS: The use of 25-gauge vitrectomy and relaxing retinectomy provides a high rate of reattachment and improved visual acuity.

Ophthalmic Artery Occlusion and Subsequent Retinal Fibrosis From a Calcium Hydroxylapatite Filler Injection.

PURPOSE: We report a case of otherwise healthy 48-year-old woman presenting with acute vision loss after injection of a soft tissue filler injection in the glabellar region with calcium hydroxylapatite microspheres (Radiesse®) with 9 months of follow-up. OBSERVATIONS: Fundus photographs and spectral domain optical coherence tomography (SD-OCT) were obtained at presentation, 4 months of follow-up, and 9 months of follow-up. Acutely, the retina was characterized by significant pallor and thickening but evolved into diffuse retinal fibrosis and atrophy. The patient was no light perception at presentation, and did not recover any visual function. CONCLUSIONS AND IMPORTANCE: Few case reports have described calcium hydroxylapatite filler injections leading to orbital and ocular complications. This is the first case report illustrating dense fibrotic and atrophic retinal changes on both fundus photography, fluorescein angiography, and SD-OCT. While various facial fillers have been reported to have serious ocular consequences, we illustrate the acute and subsequent sequelae of an ophthalmic artery occlusion from calcium hydroxylapatite microspheres (Radiesse®).

Resolution of an exposed pars plana Baerveldt shunt in a patient with a Boston keratoprosthesis type 1 without surgery.

Patients with a keratoprosthesis often develop complications including glaucoma, requiring glaucoma drainage devices. In most of these patients, glaucoma drainage devices have been shown to be safe and effective. However, occasionally, a glaucoma drainage device in the setting of a keratoprosthesis can lead to conjunctival erosion with mechanical trauma. While repeat surgical intervention may appear necessary, we report a case of a patient who had improved conjunctival erosion and glaucoma drainage device exposure after refitting of a therapeutic contact lens. Therapeutic contact lenses can be used to maintain hydration and decrease exposure while improving cosmesis and refractive error. Complications following keratoprosthesis surgery are an understudied area, particularly regarding glaucoma drainage devices, and we seek to show that careful fitting of therapeutic contact lenses may avoid the risks of repeat surgical intervention.

Brimonidine tartrate for the treatment of glaucoma.

INTRODUCTION: Brimonidine tartrate is a commonly used eyedrop for short- and long-term lowering of intraocular pressure. Its use has been popularized due to its effects on aqueous suppression and uveoscleral outflow, as well as the suggestion of neuroprotection. Although available with alternative preservative vehicles, brimonidine is associated with high rates of local allergy and is contraindicated in breastfeeding women, neonates, young children, and the elderly due to risk of central nervous system depression. Other topical agents with differing advantages have challenged brimonidine's role in the treatment algorithm of ocular hypertension and glaucoma. Areas covered: The authors review the development of topical alpha-adrenergic agonists, with particular attention to the currently available formulations of brimonidine tartrate. Its mechanism of action, pharmacodynamics and safety, and clinical efficacy are analyzed. Expert opinion: Despite clinical familiarity with brimonidine after two decades of use, agents that offer daily dosing, nocturnal effect, and more favorable ocular and systemic side effect profiles have ultimately led to brimonidine's adjunctive use in patients with elevated intraocular pressure or high- or low-tension glaucomas. Still, brimonidine may be advantageous in patients undergoing laser trabeculoplasty or iridotomy, in certain forms of glaucoma, or in pregnant individuals prior to the last trimester, underscoring its clinical importance.

Inpatient and Emergency Room Ophthalmology Consultations at a Tertiary Care Center.

BACKGROUND: An ophthalmology consultation service is of significant benefit to patients in the hospital and is an instructive component of a residency education program. Ophthalmology consultations in a hospital present unique challenges to those seen in an outpatient clinic, for which the consulting ophthalmologist should be prepared. The purpose of this study was to profile the emergency room and inpatient ophthalmology consultations seen at an academic institution. METHODS: A prospective study of 581 patients was conducted on inpatient and emergency room ophthalmology consultations at the University of Illinois at Chicago over twelve months. Characteristics such as the consulting service, type of and reason for consultation, subspecialty staffing service, diagnosis, and suitability for in-hospital evaluation were recorded. RESULTS: Consultations were received from either inpatient wards (59.4%) or the Emergency Department (40.6%). The most common inpatient consulting services were internal medicine (22%), followed by neurosurgery (16%) and neurology (7%). All the consultations were categorized as acute (72.3%), chronic (6.0%), or screening (21.7%). Consultations categorized as screening included papilledema (31.0%), fungemia (20.6%), syndromic evaluation (19.8%), visual field evaluation (17.5%), and miscellaneous evaluation (11.1%). We classified the ophthalmic diagnoses into 63 unique diagnoses. Amongst the ophthalmic subspecialties, neuro-ophthalmologic diagnoses were the most common (32.0%), followed by retina (20.1%) and cornea (19.4%). Neuro-ophthalmology had the highest proportion of screening consultations (36.6%), while glaucoma had the least overall number of consultations (10.1%), and the least proportion of screening consultations (3.6%). A significant proportion of nonacute consultations (19.0%) was deemed to be more suitable for outpatient evaluation. DISCUSSION: Consultation databases can be useful in preparing trainees for in-hospital clinical care. A wide range of ocular pathologies may present to the ophthalmology consultant, from acute trauma to screening for systemic syndromes. Some consultations may be more suitable for outpatient evaluation which may help optimize patient care.

A complex choristoma presenting as a salmon patch lesion in the bulbar conjunctiva.

PURPOSE: We describe a rare case of a complex choristoma appearing as a salmon-patch lesion in the nasal conjunctiva. While benign, complex choristomas are grossly indistinguishable from malignant lesions, and an excisional biopsy is warranted to confirm the diagnosis. OBSERVATIONS: A 31-year-old man presented with an elevated glistening pink mass on the conjunctiva. An excisional biopsy with a "no-touch" technique was performed, followed by placement of an amniotic membrane graft without postoperative complications. No subsequent medical treatment was pursued after the biopsy and histopathologic evaluation. Histopathology confirmed a diagnosis of a complex choristoma with sections consisting of fibroadipose tissue with cartilage, smooth muscle, and nerves. Histopathology was negative for malignant cells without morphologic evidence of a lymphoma. CONCLUSIONS AND IMPORTANCE: Conjunctival tumors are difficult to distinguish clinically, and a differential diagnosis often includes the possibility of a malignancy. Histopathologic diagnosis may be required to distinguish between various entities. In our case, a salmon-patch conjunctival tumor was biopsied and confirmed to be a benign complex choristoma.

Refractory Lactic Acidosis in Small Cell Carcinoma of the Lung.

BACKGROUND: Elevated lactate levels in critically ill patients are most often thought to be indicative of relative tissue hypoxia or type A lactic acidosis. Shock, severe anemia, and thromboembolic events can all cause elevated lactate due to tissue hypoperfusion, as well as the mitochondrial dysfunction thought to occur in sepsis and other critically ill states. Malignancy can also lead to elevation in lactate, a phenomenon described as type B lactic acidosis, which is much less commonly encountered in the critically ill. CASE PRESENTATION: We present the case of a 73-year-old Caucasian woman with type 2 diabetes and hypertension who presented with abdominal pain, nausea, vomiting, nonbloody diarrhea, and weight loss over five weeks and was found to have unexplained refractory lactic acidosis despite fluids and antibiotics. She was later diagnosed with small cell carcinoma of the lung. CONCLUSIONS: In this case report, we describe a critically ill patient whose elevated lactate was incorrectly attributed to her acute illness, when in truth it was an indicator of an underlying, as yet undiagnosed, malignancy. We believe this case is instructive to the critical care clinician as a reminder of the importance of considering malignancy on the differential diagnosis of a patient presenting with elevated lactate out of proportion to their critical illness.