Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing.

INTRODUCTION: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes. CASE: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis. DISCUSSION: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR's heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.

Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review.

Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population. Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment. Conclusions and importance: Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.

OUTCOMES OF INFECTIOUS PANUVEITIS ASSOCIATED WITH SIMULTANEOUS MULTI-POSITIVE OCULAR FLUID POLYMERASE CHAIN REACTION.

PURPOSE: To evaluate features of infectious panuveitis associated with multiple pathogens detected by ocular fluid sampling. METHODS: Single-center, retrospective, consecutive case series of patients with aqueous/vitreous polymerase chain reaction testing with >1 positive result in a single sample from 2001 to 2021. RESULTS: Of 1,588 polymerase chain reaction samples, 28 (1.76%) were positive for two pathogens. Most common pathogens were cytomegalovirus (n = 16, 57.1%) and Epstein-Barr virus (n = 13, 46.4%), followed by varicella zoster virus (n = 8, 28.6%), Toxoplasma gondii (n = 6, 21.4%), herpes simplex virus 2 (n = 6, 21.4%), herpes simplex virus 1 (n = 6, 21.4%), and Toxocara (n = 1, 3.6%). Mean initial and final visual acuity (logarithm of the minimum angle of resolution) were 1.3 ± 0.9 (Snellen ∼20/400) and 1.3 ± 1.1 (Snellen ∼20/400), respectively. Cytomegalovirus-positive eyes (n = 16, 61.5%) had a mean final visual acuity of 0.94 ± 1.1 (Snellen ∼20/175), whereas cytomegalovirus-negative eyes (n = 10, 38%) had a final visual acuity of 1.82 ± 1.0 (Snellen ∼20/1,320) ( P < 0.05). Main clinical features included intraocular inflammation (100%), retinal whitening (84.6%), immunosuppression (65.4%), retinal hemorrhage (38.5%), and retinal detachment (34.6%). CONCLUSION: Cytomegalovirus or Epstein-Barr virus were common unique pathogens identified in multi-PCR-positive samples. Most patients with co-infection were immunosuppressed with a high rate of retinal detachment and poor final visual acuity. Cytomegalovirus-positive eyes had better visual outcomes compared with cytomegalovirus-negative eyes.

Consensus and controversies in the science of endophthalmitis management: Basic research and clinical perspectives.

Infectious endophthalmitis is a severe intraocular infection caused by bacteria, or less commonly by fungi. It can occur after penetrating eye procedures, trauma, or the spread of infection from contiguous structures or via emboli from distant organs. Because of the time-critical nature of the treatment, endophthalmitis is treated with the clinical diagnosis and modified by the microbiological report of the intraocular contents. The current strategy for managing endophthalmitis relies on pre-clinical literature, case series, and one large multi-center randomized clinical trial on post-cataract surgery endophthalmitis. Culture-susceptibility of the microorganisms from undiluted vitreous guides the definitive treatment in non-responsive cases. Strategies to reduce the incidence of endophthalmitis after penetrating eye procedures have been developed concurrently with refined means of treatment. Despite these advances, outcomes remain poor for many patients. Although consensus articles have been published on managing endophthalmitis, treatment patterns vary, and controversies remain. These include (1) the use of newer methods for early and precise microbiological diagnosis; (2) the choice of intravitreal antibiotics; (3) the need for systemic therapy; (4) early and complete vitrectomy. Here, we review the current consensus and address controversies in diagnosing and managing endophthalmitis. This review is intended to familiarize physicians and ophthalmologists with different aspects of endophthalmitis management to make informed decisions.

Identification of macular neovascularization in central serous chorioretinopathy using swept-source OCT angiography.

Purpose: Swept-source optical coherence tomography angiography (SS-OCTA) was used to detect the presence of macular neovascularization (MNV) in eyes with exudative central serous chorioretinopathy (CSCR). Observations: Case 1 is a 73-year-old man using prednisolone drops with 20/40 vision and a retinal pigment epithelial detachment (PED) associated with subretinal fluid (SRF) and no clinical signs of age-related macular degeneration (AMD) in his left eye. Three months after presentation he underwent SS-OCTA imaging that revealed MNV. He received a series of intravitreal anti-vascular endothelial growth factor (VEGF) injections and SS-OCTA imaging showed a decrease in the MNV lesion size with resolution of the SRF. VA improved to 20/25. Case 2 is a 65-year-old man with recent oral steroid use, presenting with 20/20 vision, a PED, SRF, and no evidence of AMD. SS-OCTA imaging at presentation revealed MNV, which worsened on interval SS-OCTA imaging after the patient deferred treatment. Intravitreal anti-VEGF therapy was then performed with resolution of the SRF and VA improved to 20/15. A total of six cases of type 1 MNV were diagnosed with CSCR. Most were men with a history of steroid or testosterone use and were treated with good response. Conclusions and importance: SS-OCTA imaging provides a convenient non-invasive strategy for identifying CSCR eyes with MNV without the need for dye-based angiography.

Periorbital Pyoderma Gangrenosum Associated With a Cocaine-Induced Midline Destructive Lesion: Case Report and Review of the Literature.

A 72-year-old woman with a history of chronic cocaine use presented 9 months after a dog bite with a large facial ulceration and absent sinonasal structures. Biopsies were negative for infectious, vasculitic, or neoplastic pathologies. The patient was lost to follow up for 15 months and returned with a significantly larger lesion despite abstinence from cocaine. Additional inflammatory and infectious workup was negative. Intravenous steroids were administered with clinical improvement. Therefore, she was diagnosed with pyoderma gangrenosum and cocaine-induced midline destructive lesion due to cocaine/levamisole. Pyoderma gangrenosum is a rare dermatologic condition that uncommonly involves the eye and ocular adnexa. Diagnosis involves clinical examination, response to steroids, exclusion of infectious or autoimmune conditions, and identifying potential triggers including cocaine/levamisole. This report highlights a rare presentation of periorbital pyoderma gangrenosum causing cicatricial ectropion associated with concomitant cocaine-induced midline destructive lesion and reviews important aspects of clinical manifestations, diagnosis, and management of pyoderma gangrenosum and cocaine/levamisole autoimmune phenomenon.

Rates of Fellow Eye Macular Hole Development During Long Term Follow-Up.

Purpose: Identify the long-term rate of fellow eye full-thickness macular hole (FTMH) development. Patients and Methods: In this single site, single provider retrospective consecutive case series, idiopathic FTMH patients who underwent surgery from 2003 to 2014 who also had at least 5 years of follow-up information within our electronic medical record (EMR) which was started in 2014 were identified. Cases with secondary causes (ie, trauma), high myopia, bilateral FTMH on presentation, previous retinal surgery, retinal breaks, or intraocular inflammation were excluded. Demographics, medical and ocular history, refractive error, phakic status, best corrected visual acuity, follow-up duration, surgical technique, single operation anatomic success, and reoperations were recorded. Results: The rate of fellow eye FTMH was 2.6% (2/77) at 1 year, 5.2% (4/77) at 3 years, 9.1% (6/66) at 6 years, and 9.1% (7/77) as of final follow up. There were 2 cases by year 1, 2 additional cases by year 3, 2 additional cases by year 6, and 1 additional case reported thereafter. The average follow up was 11.1 ± 4.5 years. There was no significant difference in visual outcomes between primary eyes and fellow eyes. There was no significant difference in gender, age, ocular comorbidities, refractive error, phakic status, and visual acuity between the unilateral and bilateral groups. Conclusion: The rate of FTMH in the fellow eye was low but significant, increased during long-term follow up, and may stabilize after 6 years.

Needle aspiration for management of acute intraoperative fluid misdirection during phacoemulsification.

Purpose: Acute intraoperative fluid misdirection is a serious complication that may occur during phacoemulsification. We provide a detailed description and a video of our preferred technique for prompt management of acute intraoperative fluid misdirection. Observations: A 79-year-old male developed sudden shallowing of the anterior chamber and marked elevation of intraocular pressure at hydrodissection during phacoemulsification surgery. Treatment consisted of a needle aspiration of trapped fluid from the retrolental space, employing a 5/8th inch, 25-gauge needle on a medium-size syringe leading to immediate softening of the globe and deepening of the anterior chamber. The rest of the case proceeded uneventfully. The patient had uncomplicated recovery and final best-corrected visual acuity of 20/20. Conclusions and importance: Acute subcapsular infusion fluid entrapment may occur during uneventful phacoemulsification. Needle aspiration of retrolental fluid is a simple and inexpensive method for immediate resolution of high IOP and deepening of the anterior chamber, allowing the case to proceed.

Return to the Operating Room After Repair of Rhegmatogenous Retinal Detachment.

Purpose: To report the rate of all-cause returns to the operating room (OR) after surgery for rhegmatogenous retinal detachment (RRD). Patients and Methods: This was a retrospective consecutive case series; 1278 eyes underwent RRD repair from 1/1/2014 to 12/31/2016 at a tertiary care center. A total of 507 eyes returned to the OR. Surgical indication, procedure, number of reoperations, and final vision were recorded. Results: At least one secondary procedure was performed in 24.9% at 6 months, 34.7% at 1 year, and 39.7% as of last follow-up. The most common indications for reoperation were cataract (43.9%) and recurrent RRD (12.8%). Cornea, glaucoma, and oculoplastic issues were rare (each <1.1%). There was no association between final visual outcome and number of reoperations (p > 0.05). SB/PPV had the highest rate of return to OR (p < 0.001) but lowest rate of recurrent RRD (p = 0.007). Conclusion: To our knowledge, there are no other large studies that examine all-cause returns to the OR after primary RRD repair. This study provides important risk-benefit and prognostic information to patients undergoing RRD repair.

CRVO associated with COVID-19 and MTHFR mutation in a 15-year-old male.

Purpose: To report a case of a central retinal vein occlusion (CRVO) associated with COVID-19 in a patient predisposed to clotting due to a genetic mutation in methylenetetrahydrofolate reductase (MTHFR). Observations: A 15-year-old male presented with 1 day of painless blurry vision in the left eye. Exam disclosed trace anterior chamber cell, anterior vitreous cell, optic nerve head edema, temporally displaced macular star, dilated tortuous veins, and diffuse intraretinal hemorrhages. Exam and FA was consistent with CRVO, however the macular star and OCT were suggestive of a neuroretinitis.The patient then presented to a children's hospital for further evaluation. A routine screen for COVID-19 via nasopharyngeal swab was positive with a high viral load. He also had a known history of an MTHFR mutation. Extensive laboratory and neuroradiologic evaluation excluded other infectious, inflammatory, and coagulopathic etiologies. Conclusions and Importance: This is a case of CRVO associated with COVID-19 infection and an underlying systemic hypercoagulable mutation, with an initial presentation that mimicked neuroretinitis. This case provides valuable diagnostic learning points and expands our knowledge of possible ocular complications of COVID-19.

Closure of Full-Thickness Macular Holes Associated with Macular Edema with Medical Therapy.

PURPOSE: The purpose of this study was to report the closure of macular hole without surgery in 7 cases using medical therapies. METHODS: The retrospective review of 7 cases of full-thickness macular holes, which closed after medical therapy without surgery. RESULTS: Seven eyes of 7 patients developed full-thickness macular holes, which initially closed on medical therapy without surgery. Six patients were kept on maintenance therapy; 1 recurred and 5 did not develop recurrence. One patient was taken off of maintenance therapy and later developed recurrent macular hole requiring macular hole surgery. CONCLUSIONS: Medical therapy to decrease macular edema may facilitate macular hole closure and should be considered, especially for small macular holes with significant edema. Reopening of macular holes may occur after stopping topical maintenance therapy for macular edema, which occurred at 10 weeks and 9 months after maintenance therapy was discontinued or markedly tapered.

Endophthalmitis Caused by Streptococcus:Clinical Outcomes and Antimicrobial Susceptibilities 2014-2019.

BACKGROUND AND OBJECTIVE: To report the clinical settings, antibiotic susceptibilities, and outcomes of streptococcal endophthalmitis. PATIENTS AND METHODS: Retrospective case series evaluating culture-positive streptococcal endophthalmitis from January 1, 2014, to December 31, 2019. RESULTS: Thirty-eight eyes met study criteria. The most common clinical setting was post-glaucoma surgery (33.3%, 12/36). The most frequent isolate was Streptococcus viridans (63.2%, 24/38). Isolates were susceptible to vancomycin (100%, 36/36), ceftriaxone (100%, 28/28), and levofloxacin (100%, 36/36). Final best-corrected visual acuity was 20/150 or better in 24.1% (7/29) but 20/200 or worse in 75.9% (22/29). Enucleation was performed in 11.1% (4/36). A subset (n = 11) of cases were evaluated for streptococcal-specific virulence factors: pneumolysin was present in 18.2% (2/11), autolysin in 45.5% (5/11), and hyaluronidase in 54.5% (6/11). Clinical setting, antibacterial susceptibilities, timing of pars plana vitrectomy, and virulence factor presence were not associated with better visual outcome or enucleation rate (P > .05). CONCLUSION: Visual prognosis for streptococcal endophthalmitis is poor despite early and appropriate antibiotic treatment. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:182-189.].

Widefield Fluorescein Angiography in the Fellow Eyes of Patients with Presumed Unilateral Persistent Fetal Vasculature.

PURPOSE: To examine the retinal vascular findings on widefield fluorescein angiography (FA) in the fellow eyes of patients with unilateral persistent fetal vasculature (PFV). DESIGN: Retrospective case series. PARTICIPANTS: Consecutive patients with unilateral PFV evaluated by a single physician at an academic medical center from February 1, 2011, to November 30, 2018. METHODS: Clinical and demographic information, including age, gender, race, ethnicity, affected eye, subtype, stalk origin, complications on presentation, length of follow-up, and examination findings, was reviewed using the electronic medical record. Fluorescein angiograms of the affected and fellow eyes were reviewed by 2 authors for characteristic retinal vascular abnormalities. Agreement between the authors' scores was analyzed using Cohen's Kappa. MAIN OUTCOME MEASURES: Fluorescein angiography abnormalities, including peripheral vessel avascularity, aberrant circumferential vessels, terminal supernumerary branching, regional capillary dropout, terminal bulbing, abnormal choroidal flush, abnormal vessel straightening, and peripheral vessel leakage or dilation. RESULTS: Inclusion criteria were met by 41 patients. The average age at initial visit was 10.0 months. The average length of follow-up was 36.4 months. Abnormalities on FA were seen in 31 (75.6%) fellow eyes: peripheral vessel avascularity in 27.5 (67.1%), aberrant circumferential vessels in 20 (48.8%), terminal supernumerary branching in 17 (41.5%), regional capillary dropout in 9 (22.0%), terminal bulbing in 6 (14.6%), abnormal choroidal flush in 3.5 (8.5%), and abnormal vessel straightening and peripheral vessel leakage in 2.5 (6.1%). Statistical analysis disclosed an overall observed agreement of 93.4% among the raters (κ = 0.84, P < 0.0001). CONCLUSIONS: Retinal vascular abnormalities seen in patients with unilateral PFV were present in the majority of fellow eyes. This suggests that unilateral PFV may in fact be a bilateral, asymmetric process, but the clinical significance of these subtle findings is not known.

Analysis of Socioeconomic Factors Affecting Follow-Up in a Glaucoma Screening Program.

PURPOSE: To determine what socioeconomic factors affect follow-up in a glaucoma screening program. PATIENTS AND METHODS: This was a retrospective cohort study of six health fairs in South Florida from October 2012 to March 2013 among socially and economically disadvantaged populations. Visual acuity (VA), intraocular pressure (IOP), cup-to-disc ratio (CDR), and visual field testing were obtained to identify glaucoma suspects. Glaucoma suspects were defined as having intraocular pressure ≥24 mm Hg, cup-to-disc ratio of ≥0.6 in either eye, or glaucomatous defects on visual field testing. In July 2015, telephone surveys were administered to assess follow up and socioeconomic factors. RESULTS: Seventy-two out of 144 (50%) glaucoma suspects responded to the survey and were included in the analysis. Of the 72 respondents, average age was 52.8 years old and 65% were female. The most common race was African American (69%) and ethnicity was Haitian (51%). Glaucoma suspects who followed up were significantly more likely to have health insurance compared to those who did not follow up (74% vs 43%, p = 0.014). No significant difference in follow-up based on age (p = 0.125), education (p = 0.151), gender (p = 0.48), or ethnicity (p = 0.707) was identified. Of the 30 respondents, who did not follow up, the most common reasons were "no insurance" (57%, 17/30) and "not worried" (33%, 10/30). CONCLUSION: Insurance was the main socioeconomic factor in determining whether glaucoma suspects followed up after community health screenings. Streamlining social services could increase clinical access of glaucoma suspects.

Clinical Outcomes in Sequential, Bilateral Rhegmatogenous Retinal Detachment: A Multicenter, Paired-Eye Analysis.

PURPOSE: To assess the clinical outcomes in patients with sequential, bilateral rhegmatogenous retinal detachment (RRD) by using a paired-eye comparison. DESIGN: Multicenter, retrospective cohort study. PARTICIPANTS: Patients with sequential, bilateral RRD treated with pars plana vitrectomy (PPV), scleral buckle (SB), or PPV plus SB over an 11-year period (October 2008-April 2019) from 4 vitreoretinal practices were included. METHODS: Data were collected on patient demographics, anatomic characteristics of the RRD, surgical procedures, and best-corrected visual acuity (VA). These variables, along with single-operation anatomic success (SOAS) and type and number of surgical procedures, were assessed with a paired-eye comparison. MAIN OUTCOME MEASURES: Single-operation anatomic success between the initial-eye and subsequent-eye RRD. RESULTS: Five hundred four eyes of 252 patients were included. The mean interval between RRD in either eye was 13.6 ± 13.4 months. Single-operation anatomic success in the initial eye was 82.5% with a mean of 1.2 surgeries (range, 1-4 surgeries). Single-operation anatomic success in the subsequent eye was 83.7% (P = 0.80) with a mean of 1.2 surgeries (range, 1-4 surgeries; P = 0.68). Visual acuity was better in the subsequent eye at presentation (mean, 20/62 vs. 20/149; P < 0.001) and postoperative month 6 (mean, 20/41 vs. 20/49; P = 0.03), but final VA was similar (20/36 vs. 20/37; P = 0.68). Macular detachment was less prevalent (34.1% vs. 56.0%; P < 0.001) with fewer quadrants detached (mean, 1.9 quadrants vs. 2.0 quadrants; P = 0.010) in the subsequent eye. Mean duration of symptoms was shorter in the subsequent eye (mean, 5.9 days vs. 7.5 days; P = 0.008). In patients who underwent a different surgical technique in each eye, PPV plus SB yielded a higher SOAS of 89.7% compared with 69.0% for PPV alone in 116 eyes (P = 0.010). CONCLUSIONS: In this study of sequential, bilateral RRD, the SOAS was similar for each eye. The second eye was more likely to be treated earlier and to have less macular involvement, but the final VA outcomes were similar. Pars plana vitrectomy plus SB yielded a significantly higher SOAS than PPV or SB alone.

Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature.

This is a report of a 13-month-old boy who presented with a large unilateral fibrovascular stalk and bilateral peripheral retinal avascularity. Although consistent with both persistent fetal vasculature and familial exudative vitreoretinopathy, genetic testing disclosed a novel pathogenic mutation in the frizzled class receptor 4 gene (FZD4, c.427_428delCT). [J Pediatr Ophthalmol Strabismus. 2020;57:e4-e7.].

MANAGEMENT OF LARGE OR RECURRENT MACULAR HOLES.

PURPOSE OF REVIEW: To review and critically appraise the recent literature about new surgical techniques for the management of large or recurrent macular holes. RECENT FINDINGS: A variety of surgical approaches have recently been developed ranging from autologous retinal grafts to amniotic membrane transplant with varying levels of anatomical and visual success. SUMMARY: More data is needed to determine if one technique is superior to others. However, with a variety of grafts, adhesives, and tamponades at their disposal, vitreoretinal surgeons have an extensive array of options to approach complex macular holes.