Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.

BACKGROUND: Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis and treatment. RESULTS: We report a combined phenotype of X-linked FEVR and ROP in a 4-month-old girl with mosaic Turner syndrome with ring X chromosome born at 26 weeks gestational age. She was initially diagnosed with atypical ROP with a vitreous band causing a localized traction retinal detachment, inferotemporal to the macula in the right eye, vessels to posterior zone 2 with no clear ridge temporally in the left eye, and fluorescein leakage in both eyes. Due to the suspicion of concurrent FEVR, genetic testing using a vitreoretinopathy panel was performed which revealed a mosaic Turner syndrome associated with 45,X/46,X,r(X), subsequently confirmed by chromosome analysis. The deleted region in the ring X chromosome included the NDP and RS1 genes. The patient was treated with laser photocoagulation of the peripheral avascular retina and sub-Tenon's triamcinolone injection in both eyes, intravitreal injection of bevacizumab in the left eye, and pars plicata vitrectomy in the right eye. CONCLUSIONS: In premature neonates with atypical ROP, a clinical suspicion of concurrent FEVR or similar vasculopathy is important and genetic testing may elucidate a genetic etiology, which could influence management and prognosis. Turner syndrome can be connected with co-occurring Mendelian gene disorders, particularly in individuals with mosaicism. The concurrence of FEVR and ROP appears to result in atypical and possibly more severe phenotypes.

Wide Field Swept Source Optical Coherence Tomography Angiography for the Evaluation of Proliferative Diabetic Retinopathy and Associated Lesions: A Review.

Retinal imaging remains the mainstay for monitoring and grading diabetic retinopathy. The gold standard for detecting proliferative diabetic retinopathy (PDR) requiring treatment has long been the seven-field stereoscopic fundus photography and fluorescein angiography. In the past decade, ultra-wide field fluorescein angiography (UWF-FA) has become more commonly used in clinical practice for the evaluation of more advanced diabetic retinopathy. Since its invention, optical coherence tomography (OCT) has been an important tool for the assessment of diabetic macular edema; however, OCT offered little in the assessment of neovascular changes associated with PDR until OCT-A became available. More recently, swept source OCT allowed larger field of view scans to assess a variety of DR lesions with wide field swept source optical coherence tomography (WF-SS-OCTA). This paper reviews the role of WF-SS-OCTA in detecting neovascularization of the disc (NVD), and elsewhere (NVE), microaneurysms, changes of the foveal avascular zone (FAZ), intraretinal microvascular abnormalities (IRMA), and capillary non-perfusion, as well as limitations of this evolving technology.

Swept Source Optical Coherence Tomography Compared to Ultrasound and Biomicroscopy for Diagnosis of Posterior Vitreous Detachment.

BACKGROUND: Biomicroscopy, B-scan ultrasound imaging, and SD-OCT are all modalities used to characterize a posterior vitreous detachment (PVD). Our objective is to assess the precision of the diagnosis of PVD by SS-OCT. METHODS: This prospective observational study examines ninety-five eyes of forty-nine patients with biomicroscopy, B-scan ultrasound, and SS-OCT for the presence or absence of a complete PVD. All SS-OCT images were reviewed by two retina specialists (RWSC, ZM). All three diagnostic methods were evaluated for agreement by Cohen's kappa statistic. RESULTS: The inter-rater reliability between retina specialists reading the SS-OCT images was 97.9% (κ = 0.957). Agreement on PVD status between SS-OCT and biomicroscopy was 85.3% (κ = 0.711). Agreement between SS-OCT and B-scan ultrasound was 83.2% (κ = 0.667). Agreement between B-scan ultrasound and biomicroscopy was 87.4% (κ = 0.743). CONCLUSION: For the diagnosis of complete PVD, SS-OCT allows for high accuracy and agreement between graders.

Ophthalmology and Ethics in the COVID-19 Era.

PURPOSE: The novel coronavirus, SARS-CoV-2 (COVID-19), has disrupted the practice of ophthalmology and threatens to forever alter how we care for our patients. Physicians across the country encounter unique clinical dilemmas daily. This paper presents a curated set of ethical dilemmas facing ophthalmologists both during and following the pandemic. DESIGN: Perspective. METHODS: Case presentations drawn from actual clinical scenarios were presented during a virtual ophthalmology grand rounds and discussed with the director of clinical ethics at Columbia University Irving Medical Center. RESULTS: It has become routine to expect an ophthalmologist to be involved in many levels of care for patients critically ill with COVID-19. Ophthalmology patients, even those with chronic, progressive conditions, are being triaged, and vision-saving interventions are being postponed. Four questions were applied to each scenario, allowing for ethical conclusions to be reached. The following questions were posed: what is the imminence and severity of the harm expected without intervention? What is the efficacy of the intervention under consideration? What are the risks of treatment for the patient? What are the risks of treating the patient for the health care team? CONCLUSIONS: During this pandemic and for months, perhaps years, to come, it is critical to reconsider the ethical principles underlying modern medicine and ophthalmic care as well as the ramifications of our decisions and actions.

Retina specialists treating cystoid macular oedema secondary to retinal vein occlusion recommend different treatments for patients than they would choose for themselves.

AIMS: To evaluate the presence of cognitive bias among retinal specialists when recommending treatment options for cystoid macular oedema (CMO) secondary to retinal vein occlusion (RVO). METHODS: Two randomly chosen samples of retina specialists were surveyed regarding their treatment and dosing regimen choices among three antivascular endothelial growth factor (anti-VEGF) biologics (aflibercept, bevacizumab and ranibizumab), intravitreal steroid, focal laser and observation for the treatment of CMO secondary to RVO. The first group was asked to make recommendations for two hypothetical patients: one with CMO secondary to branch RVO (BRVO) and the second with CMO secondary to central RVO (CRVO). The second group was asked to make recommendations as if they themselves were the hypothetical patient with the same disease processes. RESULTS: The survey was completed by 492 respondents (20.1%). When comparing anti-VEGF agents for patients with BRVO, a majority of physicians recommended bevacizumab (60.5%) over ranibizumab (37.8%) and aflibercept (1.7%; p<0.0001). For themselves, physicians were more likely to recommend ranibizumab (44.9%) over bevacizumab (39.2%) and aflibercept (15.9%; p<0.0001). When comparing among the anti-VEGF agents chosen for patients with CRVO, a majority of physicians recommended bevacizumab (56.7%) over ranibizumab (28.2%) and aflibercept (15.1%; p<0.0001), but when choosing for themselves, retina specialists were equally divided among the three biologics (aflibercept 30.6%, bevacizumab 36.5% and ranibizumab 32.9%; p=0.559). The results were influenced by geographical location but not by the gender, the length of practice or the type of practice. CONCLUSIONS: Physicians should be aware that cognitive biases exist and take this into consideration when making treatment recommendations for their patients.

An Evaluation of Postoperative Complications and Cost After Short-Stay Thyroid Operations.

BACKGROUND: Concern for postoperative complications causing airway compromise has limited widespread acceptance of ambulatory thyroid surgery. We evaluated differences in outcomes and hospital costs in those monitored for a short stay of 6 h (SS), inpatient observation of 6-23 h (IO), or inpatient admission of >23 h (IA). METHODS: We retrospectively reviewed all patients undergoing thyroidectomy from 2006 to 2012. The incidence of postoperative hemorrhage, nerve dysfunction, and hypocalcemia were evaluated, as well as cost data comparing the SS and IO groups. RESULTS: Of 1447 thyroidectomies, 880 (60.8 %) were performed as SS, 401 (27.7 %) as IO, and 166 (11.5 %) as IA. Fewer patients in the SS group (59 %) underwent total thyroidectomy than IO (73 %) and IA (71 %; p < 0.01), and SS patients had smaller thyroid weights (27.9 g) compared with IO and IA (47.2 and 98.9 g, respectively; p < 0.01). Ten (0.69 %) patients developed hematomas requiring reoperation, five of the ten patients received antiplatelet or anticoagulant therapy perioperatively. Only one patient in the IA group bled within the 6- to 23-h period, and no patients with bleeding who were discharged at 6 h would have benefitted from 23-h observation. Twenty-four (1.66 %) recurrent laryngeal nerve injuries were identified, 16 with temporary neuropraxias. In addition, 24 (1.66 %) patients had symptomatic hypocalcemia, which was transient in 17 individuals. Financial data showed higher payments and lower costs associated with SS compared with IO. CONCLUSIONS: Selective SS thyroidectomy can be safe and cost effective, with few overall complications in patients undergoing more complex operations involving larger thyroids who were admitted to hospital.