Posterior Retinal Breaks Secondary to Closed-Globe Blunt Ocular Trauma.

Purpose: To describe 2 cases of posterior pole retinal tears resulting from closed-globe trauma. Methods: Two cases of retinal breaks in the posterior pole after blunt ocular trauma were evaluated, and the relevant literature was reviewed. Results: Two eyes of 2 patients with posterior pole retinal tears secondary to closed-globe trauma were included. One patient had a pars plana vitrectomy with laser retinopexy and gas tamponade; the final Snellen visual acuity (VA) was 20/200. The second patient was treated with indirect laser retinopexy; the final Snellen VA was counting fingers. Conclusions: The rapid deformation of the globe in response to blunt ocular trauma may create significant tangential stress on the retina, leading to stretch breaks in the posterior pole. Clinicians should follow patients with a closed-globe injury to watch for retinal breaks in the posterior pole, in particular when a hemorrhage or other pathology obscures the view.

INCIDENCE AND RISK FACTORS FOR EXUDATIVE RETINAL DETACHMENT FOLLOWING LASER PHOTOCOAGULATION FOR RETINOPATHY OF PREMATURITY.

PURPOSE: Exudative retinal detachment (ERD) may result from laser photocoagulation for retinopathy of prematurity. Although risk factors have been hypothesized from case reports, comparative studies have not been reported. We sought to evaluate risk factors for ERD following laser, comparing affected and unaffected infants. METHODS: Retrospective cohort study of infants undergoing retinopathy of prematurity laser at the Children's Hospital of Philadelphia over 6 years. All received near-confluent laser of avascular retina. Demographic, medical, and procedural risk factors for ERD were evaluated in univariate analysis because of the rarity of ERD. RESULTS: Among 149 lasered infants, 6 infants (4%, 95% confidence interval [CI] 1.5%-8.6%) developed ERD. Race was a significant risk factor ( P = 0.01). Among 71 African American or Hispanic infants, 6 (8.5%, 95% CI 3.2%-17.5%) developed ERD. Among 78 non-African American or Hispanic infants, 0 (0%, 95% CI 0%-4.6%) developed ERD. There were no significant differences in the other studied factors. CONCLUSION: Exudative retinal detachment was uncommon (4%) following retinopathy of prematurity laser. Despite so few cases, darker pigmented race with likely increased pigmented fundi was significantly associated with an increased ERD risk. Further study may reveal whether increased choroidal pigment causes greater laser tissue damage or makes it difficult to discern the ora, resulting in inadvertent lasering of the ciliary body, leading to ERD.

Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.

PURPOSE: To describe a case of TUBA1A-associated optic nerve hypoplasia and persistent fetal vasculature. METHODS: Observational case report. RESULTS: A female, full term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic exam was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal non-perfusion. Subsequent genetic testing revealed a TUBA1A genetic variant. CONCLUSION: Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal exam and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.

Iatrogenic macular hole due to Nd:YAG-SLT laser: Case report and management: Nd:YAG-SLT laser iatrogenic macular hole.

PURPOSE: To report a case of a patient who suffered a full thickness macular hole (FTMH) due to the accidental utilization of the selective laser trabeculoplasty (SLT) mode of a dual mode laser. METHOD: Case report. RESULTS: A 69-year-old woman experienced vision loss in her left eye immediately after undergoing attempted Neodymium:yttrium-aluminum-garnet (Nd:YAG) capsulotomy using a Nd:YAG-SLT laser system. Post-injury visual acuity was 20/25 and 20/800 in the right and left eyes, respectively. Ophthalmic exam and multimodal imaging revealed multiple macular hemorrhages and an irregular FTMH. The patient required multiple surgeries including an autologous retinal transplant to achieve hole closure. CONCLUSIONS: Macular hole formation is a devastating consequence of inadvertent use of the SLT mode when performing a Nd:YAG laser capsulotomy with a Nd:YAG-SLT laser system. We emphasize the importance of ensuring the correct mode is selected for treatment to minimize the risk of retinal damage and permanent vision loss.

Congenital Retinal Macrovessel and Cavernous Hemangioma in Cowden Syndrome - A Case Report and Review of Literature.

PURPOSE: To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature. METHODS: Observational case report and literature review. RESULTS: A 45-year-old white female with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian para-tubal cyst, chromophobe type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene which was consistent with CS. CONCLUSION: Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation including routine ocular examinations.

Teclistamab-Associated Sclerouveitis with Hypopyon.

PURPOSE: To report a case of presumed teclistamab-associated sclerouveitis with hypopyon. METHODS: Case report. RESULTS: A 62-year-old female with relapsed refractory multiple myeloma presented with right eye pain and decreased vision one week after starting teclistamab, and was found to have sclerouveitis with hypopyon. She received intravitreal vancomycin and ceftazidime due to concern for infectious endophthalmitis, but cultures were negative. Systemic workup for infectious and inflammatory etiologies was unremarkable. Her signs and symptoms improved with topical steroids and a one-week pause in teclistamab. This case constituted a Naranjo Adverse Drug Reaction Probability Scale score of 5, representing a "probable" association. CONCLUSION: Teclistamab, a novel bispecific antibody recently approved for the treatment of relapsed or refractory multiple myeloma, may be associated with sclerouveitis with hypopyon.

Retinal detachment in a pediatric patient with enhanced S-cone syndrome.

Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a retinal degeneration that presents in childhood and leads to progressive nyctalopia and visual field loss. In advanced cases, this degeneration can result in loss of central visual acuity. We describe the case of a 15-year-old boy with ESCS who presented with retinal detachment, a rare complication.

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Purpose: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. Observations: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the CHM gene, which was reclassified as pathogenic following segregation analysis. The patient was diagnosed with choroideremia due to a CHM pathogenic variant. Conclusions: The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.

Recent Practice Patterns in Acute Retinal Artery Occlusions in the United States.

PURPOSE: To determine how to practice patterns for work-up of incident retinal artery occlusion (RAO) compare to the American Academy of Ophthalmology (AAO) guidelines. METHODS: In this cohort study, patients receiving a new diagnosis of RAO, either central (CRAO) or branch (BRAO), were identified between 2002 and 2020 from a large US medical claims database. Claims were reviewed for diagnostic tests specified by the AAO as essential components of an RAO work-up including carotid ultrasound, echocardiogram, magnetic resonance imaging (MRI) and emergency department (ED) referral. Outcomes included rates of and time to completion of work-up. RESULTS: 18697 new outpatient diagnoses of RAO (11348 BRAO, 7349 CRAO) were analyzed. 15.9% and 30.4% of patients received carotid ultrasounds within 7 and 30 days, respectively. 9.4% and 21.1% of patients received echocardiograms within 7 and 30 days, respectively. 4.9% and 8.1% of patients received a brain MRIs within 7 and 30 days, respectively. Only 4.1% of patients were referred to the ED within a day of diagnosis. Ophthalmologists diagnosed the majority (78.7%) of RAOs compared to neurologists (0.6%). Patients diagnosed by ophthalmologists were significantly more likely to have carotid ultrasound within 7 days, but those diagnosed by neurologists were more likely to have echocardiogram, MRI, and ED referral (p < .01 for all comparisons). The rates of adherence to the AAO care guidelines increased significantly between 2002 and 2020 (p < .01). CONCLUSIONS: The referral and work-up practices demonstrated in this new RAO diagnosis patient cohort have improved with time but are still far below the standard recommended by the AAO.

NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.

PURPOSE: To describe in detail the phenotype of two siblings with biallelic NMNAT1 mutations. METHODS: A 4-year-old male patient (P1) and his 7-year-old sister (P2), product of a nonconsanguineous union of Egyptian ancestry, underwent a comprehensive ophthalmic examination, retinal imaging with spectral domain optical coherence tomography and near infrared (NIR) fundus autofluorescence (FAF), and full-field electroretinograms (ERG). RESULTS: Patients had blurred vision and nystagmus at ∼3 years of age. P2 was hyperopic (+6D). Visual acuity in P1 was 20/100 at age 3 and remained at ∼20/125 at age 4; P2 visual acuity was 20/70 at age 4 and declined to ∼20/200 at age 7. ERGs recorded in P1 showed relatively large rod-mediated responses but nearly undetectable cone signals. There was foveal/parafoveal depigmentation. Spectral domain optical coherence tomography showed hypoplastic foveas, a thin outer nuclear layer centrally but normal thickness beyond the vascular arcades. At the foveal center, cone outer segments were absent and the outer nuclear layer was further hyporreflective. The inner retina was mostly within normal limits. There was central depigmentation on near infrared fundus autofluorescence. Biallelic mutations were identified in NMNAT1: One was previously reported (c.769 G>A; pGlu257Lys), and the other one (c.245T>C; pVal82Ala) was novel. CONCLUSION: NMNAT1 mutations cause a consistent phenotype characterized by early-onset, progressive, cone>rod retinawide dysfunction and predominantly central abnormalities ranging from a hypoplastic to an atrophic fovea, supporting a critical role for NMNAT1 in central retinal development and maintenance. Relatively preserved inner retina and detectable photoreceptors may become therapeutic targets.

The association of stroke with central and branch retinal arterial occlusion.

OBJECTIVES: To determine the near-term risk of stroke following a retinal artery occlusion (RAO). METHODS: The risk of stroke was assessed in two manners; with a self-controlled case series (SCCS) and a propensity score (PS) matched cohort study using a US medical claims database. The date of RAO diagnosis was assigned as the index date. In the SCCS, incidence of stroke was compared in 30- and 7-day periods pre- and post-index date. In PS analysis, matched cohorts were created from patients with RAO or hip fracture. Cox proportional hazard regression assessed the hazard for stroke. Patients were censored at 1 year, upon leaving the insurance plan or if they had a qualifying event for the comparison group. RESULTS: The SCCS included 16,193 patients with RAO. The incidence rate ratio (IRR) of new stroke in the month after RAO was increased compared to all periods >2 months before and all months after the index date (IRRs: 1.68-6.40, p < 0.012). Risk was increased in the week immediately following the index date compared to most weeks starting 2 weeks prior to and all weeks immediately after the index date (IRRs: 1.93-29.00, p < 0.026). The PS study analysed 18,213 propensity-matched patients with RAO vs. hip fracture. The HR for having a stroke after RAO compared to a hip fracture was elevated in all analyses (All RAO HR: 2.97, 95% CI: 2.71-3.26, p < 0.001; CRAO HR: 3.24, 95% CI: 2.83-3.70, p < 0.001; BRAO HR: 2.76, 95% CI: 2.43-3.13, p < 0.001). CONCLUSIONS: The highest risk for stroke occurs in the days following a CRAO or BRAO, supporting guidelines suggesting immediate referral to a stroke centre upon diagnosis.

Gazing Into the Crystal Ball: Calciphylaxis Causing Striking Retinal Vascular Calcification, Ocular Ischemic Syndrome, Crystalline Retinopathy, and Ischemic Optic Neuropathy.

ABSTRACT: A 72-year-old woman with membranous glomerulonephritis and failed renal transplant on peritoneal dialysis presented with bilateral vision loss. She reported several months of diminishing right eye vision that worsened after cataract extraction. On presentation, visual acuity was hand motion in the right and 20/100 in the left eye with a right afferent pupillary defect. Confrontation visual fields were constricted bilaterally. Intraocular pressure was 23 in the right eye, and there was diffuse right eye central corneal opacity with iris neovascularization. Fundus examination revealed bilateral pale optic nerves with cotton wool spot inferior to the left optic disc and diffuse arteriolar whitening with crystalline deposits in the left macula. Given fundus appearance, concurrent ischemic optic neuropathy, and ocular ischemic syndrome, ocular calciphylaxis was suspected. The patient reported development of painful gluteal nodules a month prior, and biopsy revealed calcinosis cutis, a dermatopathologic finding on the spectrum of calcific vasculitides. Her vision continued to decline in both eyes with left eye vision of 20/400. Intravenous sodium thiosulfate through hemodialysis was started with initial improvement in left eye vision to 20/125, but subsequently declined despite treatment. Pathogenesis of systemic calciphylaxis is poorly understood but believed to result from upregulation of osteogenesis and decreased inhibition of vascular calcification in parathyroid axis dyscrasias due to end-stage renal disease. Excess serum calcium-phosphate deposits in blood vessels causing tissue infarction, most commonly in the skin. Prior case reports have described ischemic optic neuropathy mimicking giant cell arteritis and crystalline retinopathy with ocular ischemic syndrome separately. Treatment with empiric intravenous sodium thiosulfate and calcium chelation may preserve vision in some patients.

Cytomegalovirus retinitis in an immunocompetent host after complicated cataract surgery.

PURPOSE: To report a case of an immunocompetent patient who developed cytomegalovirus (CMV) retinitis after complicated cataract surgery resulting in aphakia. OBSERVATIONS: A 67-year-old man with type 2 diabetes developed retinitis six months after cataract surgery that resulted in aphakia. Anterior chamber DNA testing was positive for CMV. Comprehensive systemic work-up revealed no immune insufficiency. The retinitis was successfully treated with intravitreal foscarnet and extended oral valgancyclovir treatment, however, he subsequently developed rhegmatogenous retinal detachment. CONCLUSION AND IMPORTANCE: CMV retinitis may occur in immunocompetent patients in the setting of aphakia and prolonged topical steroid use.

Characteristics of Eyes With Good Visual Acuity at 5 Years After Initiation of Treatment for Age-Related Macular Degeneration but Not Receiving Treatment From Years 3 to 5: Post Hoc Analysis of the CATT Randomized Clinical Trial.

Importance: Identifying the characteristics of eyes with neovascular age-related macular degeneration (nAMD) that maintain good vision without anti-vascular endothelial growth factor treatment for at least 3 years after management, as occurred in the Comparison of Age-Related Macular Degeneration Treatments Trials (CATT), may have prognostic importance and help in understanding the disease and its treatment. Objectives: To ascertain the characteristics of eyes in the CATT that retained good vision despite receiving no therapy for 3 years after release from the 2-year CATT treatment protocol. Design, Setting and Participants: This case-control study analyzed the baseline and follow-up characteristics of eyes with nAMD that were enrolled in the CATT from 43 US clinical centers between February 20, 2008, and December 9, 2009. After initial randomization to 1 of 4 treatment groups (ranibizumab monthly, bevacizumab monthly, ranibizumab as needed, or bevacizumab as needed), at year 1, participants in the monthly groups were rerandomized to continue monthly treatment or to switch to as-needed treatment using the same drug as originally assigned. At year 2, participants were released from the protocol to treatment at the discretion of their ophthalmologist. At year 5, participants were recalled for examination. This present analysis, conducted from December 1, 2018, to September 30, 2019, compared the eyes of 40 participants (referred to as the cessation of treatment with good visual acuity, or CTGVA, group) with the eyes of the remainder of the CATT Follow-up Study (referred to as the other group). Main Outcomes and Measures: Visual acuity, morphologic characteristics, and number of treatments over 5 years. Results: Among 625 eyes with nAMD at baseline and a visual acuity measurement at year 5, 40 (6.4%; 95% CI, 4.7%-8.7%) were included in the analysis. These 40 participants, compared with the other group (n = 585), had a lower mean (SD) age of 74.7 (7.3) years (vs 77.7 [7.3] years; P = .01) and included 26 women (65.0%). Baseline characteristics were similar between eyes in the CTGVA and other groups, except for better visual acuity letter score in the study eye (68.8 vs 61.8; P = .001) and the fellow eye (78.4 vs 68.0; P = .01) as well as the presence of blocked fluorescence seen more often in participants in the CTGVA vs the other group (27.5% vs 13.8%; P = .02). Eyes in the CTGVA group with as-needed treatment received fewer mean (SD) injections in year 1 (5.8 [4.0] vs 8.1 [3.5]) and year 2 (7.7 [5.7] vs 13.8 [6.8]) than eyes in the other as-needed group. Mean (SD) visual acuity letter score at 5 years was 79.0 (5.5; Snellen 20/25) in the CTGVA group and 57.5 (24.2; Snellen 20/80) in the other group. Conclusions and Relevance: These findings suggest that a small proportion of eyes with nAMD can retain good visual acuity with no treatment for at least 3 years after the initial 2 years of treatment. Unique characteristics of eyes that could discontinue treatment while maintaining good visual acuity could not be identified at baseline, but data suggest that not all eyes with this disease may need treatment forever. Trial Registration: ClinicalTrials.gov Identifier: NCT00593450.