SEVERE RETINAL ISCHEMIA IN INFANT WITH NEUROFIBROMATOSIS TYPE 1.

PURPOSE: To report a case of severe retinal ischemia in an infant with neurofibromatosis type 1. METHODS: Chart review, analysis of imaging studies, and review of literature. RESULTS: A boy born at 37 weeks postmenstrual age with neurofibromatosis type 1 was noted to have a large plexiform neurofibroma with left-sided involvement of the cavernous sinus, internal carotid artery, orbit, and optic nerve. He was managed for left eye glaucoma with anti-hypertensive eye drops, and at 8 months of age, he was referred for retinal evaluation. Fluorescein angiography showed striking nonperfusion of the left retina with only a small area of perfused vessels in the posterior pole. A large frond of neovascularization extended anteriorly from the posterior pole. The right eye had a crescent of retinal nonperfusion in the far periphery but otherwise normal retinal vessels. CONCLUSION: This case demonstrates a severe form of retinal ischemia in the setting of a large neurofibroma because of neurofibromatosis type 1. We hypothesize that vascular compression from the tumor led to disruption of the neurovascular bundle with resultant severe nonperfusion, neovascularization, and retinal maldevelopment.

Visual Morbidity and Outcomes of Scleritis Associated with Intraocular Inflammation Compared to Isolated Scleritis.

PURPOSE: To compare visual outcomes, ocular complications and therapies for patients with scleritis-associated intraocular inflammation (SAI) and patients with isolated scleritis (IS). RESULTS: A total of 52 patients (36 with SAI and 16 with IS) were reviewed. Mean age (standard deviation) at presentation was 48.4 years old (± 15.4) in the SAI group and 53 years old (± 17.1) in the IS group (p = .37). Visual acuity was worse at presentation and last visit for patients with SAI compared to IS (p = .04). Patients in the SAI group developed greater posterior segment complications than in the IS group (p = .002). CONCLUSIONS: Scleritis with intraocular inflammation was associated with a higher rate of visual morbidity compared to isolated scleritis. More aggressive management strategies may be needed for patients who present with scleritis associated with inflammation.

Telemedicine-based approach to caring for patients with inherited retinal diseases: patient satisfaction and diagnostic testing completion rates.

BACKGROUND: During the COVID-19 pandemic, the Emory Ophthalmic Genetics Service (EOGS) adopted a hybrid telehealth-based care model, with patients undergoing a tailored panel of ancillary tests in addition to a video telehealth encounter with the EOGS physician. This study evaluates patient satisfaction with this model and effectiveness of these encounters in producing a clinical and genetic diagnosis. MATERIALS AND METHODS: A trained interviewer administered a 14-question validated patient satisfaction survey to eligible subjects between October 2020 and April 2021. A mean "favorability index" for patient satisfaction was calculated (maximum score = 5). Rates of ancillary testing, completion of genetic testing, and diagnostic accuracy were also assessed, and compared to results from a control group of EOGS patients that underwent in-person visits. RESULTS: Twenty-one of 33 eligible patients completed the survey. Nine (42.9%) were female, with mean (± SD) age 51.3 ± 13.6 years. The control group was comprised of 49 subjects, predominantly female (71.4%), with mean age 51.5 ± 15.2 years. The mean (range) favorability index was 4.3 (3.1-5.0). Rates of ancillary testing were lower for the telemedicine group vs. the control group: 38.1% vs. 85.7% (p < .001) for electrophysiology; 42.9% vs. 71.4% (p = .03) for perimetry; and 81.0% vs. 95.9% (p = .04) for fundus imaging. Two (11.1%) and 1 (2.8%) (p = .21) subjects in the telehealth and control groups, respectively, did not complete recommended genetic testing. The clinical diagnosis was compatible with the genetic diagnosis in all subjects. CONCLUSIONS: Our results suggest high patient satisfaction and diagnostic accuracy with a hybrid telemedicine-based approach for IRD care, despite lower rates of ancillary testing and no in-person examination.

Case Report: Delayed Onset Multi-Organ Toxicities in a Melanoma Patient Achieving Complete Response to BRAF/MEK Inhibition.

Autoimmune toxicities, while common following treatment with cancer immunotherapies, are not well-characterized in patients treated with BRAF/MEK inhibitors. Emerging data suggest that autoimmune effects may be linked with superior responses to both treatment modalities; however, there is little evidence describing mechanisms of immune-related toxicity for patients on BRAF/MEK inhibitors. Here we describe the experience of a 59-year-old HLA-A2, A29, B27-positive male with recurrent/metastatic melanoma. After progression on checkpoint inhibitor therapy, he was treated with dabrafenib/trametinib followed by encorafenib/binimetinib, which were well-tolerated and resulted in a complete response. Eighteen months into BRAF/MEK inhibitor therapy, and three months after initially finding a complete response, he developed a series of sudden-onset, severe toxicities: namely, bilateral panuveitis, cytopenias, joint pain, skin rash, hypercalcemia, and interstitial nephritis, which led to BRAF/MEKi cessation. Immunological analyses revealed induction of a peripheral type-17 cytokine signature characterized by high IL-23, IL-6, IL-10, IL-17A/F, IL-1ß, and IL-21 among other cytokines in plasma corresponding with the height of symptoms. These findings highlight a novel instance of delayed autoimmune-like reaction to BRAF/MEK inhibition and identify a possible role for Th/Tc17 activation in their pathogenesis thus warranting future clinical and immunological characterization.

Assessing the phacoemulsification learning curve using duration of each step.

PURPOSE: To assess the phacoemulsification learning curve for ophthalmology residents using duration for each step. SETTING: Single tertiary, training site hospital. DESIGN: Cross-sectional study. METHODS: Emory ophthalmology postgraduate year (PGY) 3 and PGY-4 residents operating at Grady Memorial Hospital between April 2017 and February 2018 were eligible to participate. Duration in seconds for each step of surgery was calculated for incisions, continuous curvilinear capsulorhexis (CCC), hydrodissection, nucleus disassembly, quadrant removal, cortical cleanup, intraocular lens insertion, and closure, and this outcome was analyzed as a function of different experience levels. RESULTS: A total of 528 surgeries were included of 549 total surgeries recorded. 6 categories of experience levels were established as A to F, increasing by increments of 50. There was an overall downward trend across various steps across the 8 case categories, and several adjacent categories demonstrate statistically significant differences. The 3 most time-intensive steps early in training were nucleus disassembly (336.5 ± 16.5 seconds), quadrant removal (275.1 ± 18.0 seconds), and cortical cleanup (244.2 ± 24.6 seconds). There was a sustained drop in mean duration for all steps through at least category D, with most steps showing a drop through category F. CONCLUSIONS: There is a benefit to a higher caseload, well above the Accreditation Council for Graduate Medical Education-mandated 86 cases. Improvements in efficiency were observed after 250 cases, with nuclear disassembly and CCC demonstrating a significant decrease in operative time.

Diagnostic retinal biopsy in the management of secondary non-CNS vitreoretinal lymphoma masquerading as viral retinitis: a case report.

BACKGROUND: Intraocular lymphoma accounts for fewer than 1% of intraocular tumors. When the posterior segment is involved, it can be further classified as vitreoretinal or choroidal lymphoma. Vitreoretinal lymphoma (VRL) can rarely masquerade as an infectious retinitis making diagnosis and management challenging. RESULTS: A 73-year-old woman with a history of non-central nervous system (CNS) involving diffuse large B-cell lymphoma (DLBCL) was referred for worsening blurry vision-visual acuity of count figures at 2 ft-in her right eye for 8 months. Dilated fundus examination of the right eye was significant for retinal whitening and dot-blot hemorrhages, which was concerning for a viral retinitis and guided initial management. Secondary intraocular lymphoma was also considered. The retinal disease continued to progress despite intravitreal and systemic antiviral therapy, and a diagnostic vitrectomy was inconclusive. A retinal biopsy was then performed, which showed DLBCL, confirming a diagnosis of secondary VRL. Three subsequent treatments with intravitreal methotrexate led to regression of the VRL. CONCLUSIONS: Our case highlights the utility of a retinal biopsy after an inconclusive diagnostic vitrectomy in a challenging scenario of VRL to establish a diagnosis and initiate successful treatment. A multidisciplinary team of providers was essential for diagnosis, comprehensive workup, medical and surgical management of the patient.

Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome.

Jeune syndrome is a rare skeletal dysplasia with an associated retinal dystrophy. The authors describe a case of progressive bilateral macular atrophy (with multimodal imaging) in a patient with Jeune syndrome who was followed over 13 years. This case, confirmed with genetic testing, highlights the importance of characterizing the relationship between phenotype and genotype in this genetically heterogenous condition. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:107-109.].

Motor Vehicle-Associated Traumatic Ocular Injuries Secondary to External Rear-Facing Sideview Mirrors: A Report of 3 Patients.

IMPORTANCE: Rear-facing sideview mirrors are a potentially reducible source of ocular morbidity following motor vehicle crashes. OBJECTIVE: To report cases highlighting shattered glass from sideview mirrors as a potential cause of ocular trauma in motor vehicle crashes. DESIGN, SETTING, AND PARTICIPANTS: Case series of 3 patients who presented to Grady Memorial Hospital, a level 1 trauma center and tertiary hospital, between May 5, 2017, and July 10, 2017, with ocular trauma as a result of shattered glass from sideview mirrors during motor vehicle crashes. A review of the literature was also conducted. Data were analyzed between July 2017 and August 2017. INTERVENTIONS OR EXPOSURES: Operation for exploration and repair of open globe in all 3 cases. MAIN OUTCOMES AND MEASURES: Visual prognosis and ocular morbidity postoperatively. RESULTS: All patients were white men in the age range of 26 to 43 years. This was a retrospective review of 3 of 208 patients who presented to Grady Memorial Hospital after motor vehicle crashes from May 5, 2017, to July 10, 2017. From the time of presentation of the 3 reported patients from Grady Memorial Hospital, all 3 had 2 surgeries inclusive of the initial open globe repair. Patients with this mechanism of injury experienced ocular morbidity, with all 3 cases resulting in uveal prolapse and 2 of 3 resulting in retinal detachments. Among the 3 patients, visual acuities after the second surgery within the first year were hand motion, 20/100, and 20/150. CONCLUSIONS AND RELEVANCE: Sideview mirrors can be a cause of serious ocular injuries in motor vehicle crashes. These 3 reported cases, combined with cases previously reported, suggest that this mechanism of ocular injury does occur. Further studies seem warranted to investigate the frequency of these findings and whether any design modifications may help reduce the frequency.