Disorders with Ophthalmic and Thoracic Involvement.

A variety of systemic conditions involve the thorax and the eyes. While subtle or nonspecific eye symptoms can be the initial clinical manifestation of some disorders, there can be additional manifestations in the thorax that lead to a specific diagnosis and affect patient outcomes. For instance, the initial clinical manifestation of Sjögren syndrome is dry eye or xerophthalmia; however, the presence of Sjögren lung disease represents a fourfold increase in mortality. Likewise, patients with acute sarcoidosis can initially present with pain and redness of the eye from uveitis in addition to fever and parotitis. Nearly 90% of patients with sarcoidosis have thoracic involvement, and the ophthalmologic symptoms can precede the thoracic symptoms by several years in some cases. Furthermore, a diagnosis made in one system can result in the screening of other organs as well as prompt genetic evaluation and examination of family members, such as in the setting of Marfan syndrome or Ehlers-Danlos syndrome. Multimodality imaging, particularly CT and MRI, plays a vital role in identification and characterization of these conditions. While it is helpful for ophthalmologists to be knowledgeable about these conditions and their associations so that they can order the pertinent radiologic studies, it is also important for radiologists to use the clues from ophthalmologic examination in addition to imaging findings to suggest a specific diagnosis. Systemic conditions with thoracic and ophthalmologic manifestations can be categorized as infectious, inflammatory, autoimmune, neoplastic, or hereditary in origin. The authors describe a spectrum of these conditions based on their underlying cause. ©RSNA, 2024.

Multimodal imaging observation of primary vitreous cysts.

BACKGROUND: Primary vitreous cyst is a clinical variant delineated by the existence of a vesicle within the vitreous cavity from birth. This particular disease tends to be uncommon, and the underlying mechanisms contributing to its pathogenesis remain obscure. CASE PRESENTATION: A 37-year-old male patient manifested blurry vision and floaters in his right eye, a symptomology first noticed three months prior. Upon slit-lamp examination, a pigmented, round, 1 papilla diameter-sized mass was discerned floating in the vitreous. A meticulous examination of the floaters was conducted using an array of multimodal imaging techniques. Other potential conditions, including cysticercosis, toxoplasmosis, and tumors, were conclusively excluded through comprehensive diagnostic tests such as blood examinations, liver ultrasound, and cranial magnetic resonance imaging (MRI), resulting in the diagnosis of a primary vitreous cyst. The patient did not report any other discomforts and did not receive any subsequent interventions or treatments. CONCLUSION: We furnish an exhaustive case report of a patient diagnosed with a primary vitreous cyst. The incorporation of multimodal images in the characterization of the disease anticipates facilitating an enriched comprehension by medical practitioners.

Pediatric orbital lesions: ocular pathologies.

Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1 of this orbital series, the authors will discuss the differential diagnosis and key imaging features of pediatric ocular pathologies. These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glory disc anomaly, retinopathy of prematurity, Coats disease), optic disc drusen, infective and inflammatory lesions (uveitis, toxocariasis, toxoplasmosis), and ocular neoplasms (retinoblastoma, retinal hamartoma, choroidal melanoma, choroidal nevus). This pictorial review provides a practical approach to the imaging work-up of these anomalies with a focus on ocular US as the first imaging modality and additional use of CT and/or MRI for the evaluation of intracranial abnormalities. The characteristic imaging features of the non-neoplastic mimics of retinoblastoma, such as persistent fetal vasculature and Coats disease, are also highlighted.

Ultrasound in ocular oncology: Technical advances, clinical applications, and limitations.

Due to its accessibility and ability for real-time image acquisition of ocular structures, ultrasound has high utility in the visualization of the eye, especially in ocular oncology. In this minireview, we summarize the technical rationale and applications of ultrasound modalities, A-scan, B-scan, high-frequency ultrasound biomicroscopy (UBM), and Doppler measurement. A-scan ultrasound uses a transducer of 7-11 MHz, making it useful for determining the echogenicity of ocular tumors (7-8 MHz) and measuring the axial length of the eye (10-11 MHz). B-scan ultrasound operates at 10-20 MHz, which can be used for measuring posterior ocular tumors while UBM operates at 40-100 MHz to evaluate anterior ocular structures. Doppler ultrasonography allows for the detection of tumor vascularization. While ultrasonography has numerous clinical applications due to its favorable penetration compared with optical coherence tomography, it is still limited by its relatively lower resolution. Ultrasound also requires an experienced sonographer due to the need for accurate probe localization to areas of interest.

Portable Anterior Eye Segment Imaging System for Teleophthalmology.

Objective: This study aims to compare a new prototype for a portable anterior eye segment imaging system with the standard method for ophthalmology examination. Methods: The new imaging system consisted of two IMX219 Arducam autofocus sensors (Arducam, China, Nanjing) for Raspberry Pi V2 camera module connected to a Raspberry Pi Zero W (Raspberry Pi Foundation, UK, Cambridge) that clips to a wearable headset. The 2D videos of the anterior eye segment were recorded with the new system and a 720p FaceTime HD camera (Apple, Cupertino, CA). Afterward, ophthalmologists evaluated the videos using a standard clinical eye examination form. These evaluations were compared with the standard slit-lamp clinical assessment performed during the patient's visit. Results: Thirty-five eyes were evaluated. The sensitivity and specificity percentages were statistically significant between the two imaging modalities (P ≤ 0.001). The evaluations performed from videos obtained with the new imaging system had better sensitivity and specificity percentages overall. However, statistically significant differences were only observed in cornea, anterior chamber, iris, and lens. Conclusions: Specificity percentages were higher than sensitivity percentages in both imaging modalities, indicating that video evaluations are less accurate for pathological screening. Nevertheless, the new system evaluations were significantly better than the webcam evaluations. Translational Relevance: This study presented an alternative system to assess eye conditions for telemedicine, one that provides more details than the current standard and uses new wearable headsets technologies.

Ocular Ultrasound Abnormalities and Optic Nerve Sheath Diameter in Dogs and Cats.

Indications for, technique, and findings for normal and abnormal ocular ultrasound are discussed, with specific sonographic findings, images, differential diagnoses, and other considerations. Because the eye is a fluid-filled structure, ultrasound can be used as a screening test when pathology prevents direct examination. Structural abnormalities, such as lens luxation, retinal detachments, and intraocular and orbital masses, also may be defined better using point-of-care ultrasound. Details on additional ophthalmic diagnostics, treatment, and prognosis are not covered.

A global review of publicly available datasets for ophthalmological imaging: barriers to access, usability, and generalisability.

Health data that are publicly available are valuable resources for digital health research. Several public datasets containing ophthalmological imaging have been frequently used in machine learning research; however, the total number of datasets containing ophthalmological health information and their respective content is unclear. This Review aimed to identify all publicly available ophthalmological imaging datasets, detail their accessibility, describe which diseases and populations are represented, and report on the completeness of the associated metadata. With the use of MEDLINE, Google's search engine, and Google Dataset Search, we identified 94 open access datasets containing 507 724 images and 125 videos from 122 364 patients. Most datasets originated from Asia, North America, and Europe. Disease populations were unevenly represented, with glaucoma, diabetic retinopathy, and age-related macular degeneration disproportionately overrepresented in comparison with other eye diseases. The reporting of basic demographic characteristics such as age, sex, and ethnicity was poor, even at the aggregate level. This Review provides greater visibility for ophthalmological datasets that are publicly available as powerful resources for research. Our paper also exposes an increasing divide in the representation of different population and disease groups in health data repositories. The improved reporting of metadata would enable researchers to access the most appropriate datasets for their needs and maximise the potential of such resources.

Characterization of Ebola Virus-Associated Eye Disease.

Importance: Survivors of Ebola virus disease (EVD) may experience ocular sequelae. Comparison with antibody-negative individuals from the local population is required to characterize the disease. Objective: To assess features of ophthalmic disease specific to EVD. Design, Setting, and Participants: This baseline cross-sectional analysis of survivors of EVD and their close contacts was conducted within PREVAIL III, a 5-year, longitudinal cohort study. Participants who enrolled at John F. Kennedy Medical Center in Liberia, West Africa from June 2015 to March 2016 were included in this analysis. Close contacts were defined as household members or sex partners of survivors of EVD. Data were analyzed from July 2016 to July 2020. Exposures: All participants, both survivors and close contacts, underwent testing of IgG antibody levels against Ebola virus surface glycoprotein. Main Outcomes and Measures: Ocular symptoms, anterior and posterior ophthalmologic examination findings, and optical coherence tomography images were compared between antibody-positive survivors and antibody-negative close contacts. Results: A total of 564 antibody-positive survivors (320 [56.7%] female; mean [SD] age, 30.3 [14.0] years) and 635 antibody-negative close contacts (347 [54.6%] female; mean [SD] age, 25.8 [15.5] years) were enrolled in this study. Survivors were more likely to demonstrate color vision deficit (28.9% vs 19.0%, odds ratio [OR], 1.6; 95% CI, 1.2-2.1) and lower intraocular pressure (12.4 vs 13.5 mm Hg; mean difference, -1.2 mm Hg; 95% CI, -1.6 to -0.8 mm Hg) compared with close contacts. Dilated fundus examination revealed a higher percentage of vitreous cells (7.8% vs 0.5%; OR, 16.6; 95% CI, 5.0-55.2) and macular scars (4.6% vs 1.6%; OR, 2.8; 95% CI, 1.4-5.5) in survivors than in close contacts. Uveitis was present in 26.4% of survivors and 12.1% of close contacts (OR, 2.4; 95% CI, 1.8-3.2). Among all participants with uveitis, survivors were more likely than close contacts to have intermediate uveitis (34.2% vs 6.5% of all cases; OR, 7.8; 95% CI, 3.1-19.7) and had thicker mean central subfield thickness on optical coherence tomography (222 vs 212 µm; mean difference, 14.4 µm; 95% CI, 1.9-26.9 µm). Conclusions and Relevance: In this cross-sectional study, survivors of EVD had a distinct spectrum of ocular and neuro-ophthalmologic findings compared with close contacts that potentially require medical and surgical treatment.

Facial swelling for the emergency radiologist-typical and atypical causes.

There are a wide variety of inflammatory, infectious, and cystic lesions which may lead patients to seek acute care for facial swelling. Computed tomography (CT) has become the mainstay for imaging in the urgent/emergent setting. However, magnetic resonance imaging (MRI) can also serve as a powerful problem solving tool in the modern era. As volume continues to increase, a wide variety of facial pathology will be encountered by the emergency radiologist. Recognition of both common and uncommon pathology will assist in diagnosis and value-based care. This article serves as an image-rich review of the many causes of facial swelling with an emphasis on key imaging findings and possible complications.

Unilateral spontaneous filtering bleb dissecting into the cornea in a patient with high myopia.

PURPOSE: To report a case of a unilateral spontaneous filtering bleb dissecting into the cornea in a patient with high myopia. CLINICAL CASE: A 33-year-old woman with high myopia (-18 D) presented with discomfort in the left eye. Ocular history included pars plana vitrectomy and cataract extraction and posterior chamber intraocular lens implantation in the left eye. Best-corrected visual acuity was 0.65 and intraocular pressure was 20 mmHg. Slit-lamp examination showed a filtering bleb in the upper-temporal quadrant, which extended and dissected the proximal cornea without affecting the visual axis. The morphology and content of the bleb was studied with anterior segment optical coherence tomography, which ruled out a corneal-scleral fistulization into the subconjunctival space. The spontaneous filtering bleb was resected surgically. Due to her high myopia, two strips of fascia lata were used to strengthen the area. In the postoperative period, a complete resection of the bleb was confirmed, without apparent leaking points and with a well-vascularized conjunctiva. No complications were noted. The patient maintained the same best-corrected visual acuity and intraocular pressure than before surgery. CONCLUSION: The formation of a spontaneous filtering bleb is a rare entity in patients with high myopia, whose risk increases due to their thinned sclerae. The risk is even greater if they have undergone ocular surgeries. Resection of the filtering bleb in our case halted the progression of the corneal dissection, therefore respecting the transparency of the visual axis and preserving visual acuity.

Importance of Paravascular Vitreal Adhesions for Development of Myopic Macular Retinoschisis Detected by Ultra-Widefield OCT.

PURPOSE: To examine most postequatorial retina in eyes with myopic macular retinoschisis (MRS) by ultra-widefield (UWF) OCT and to determine whether paravascular vitreal adhesions play a role in the development of MRS. DESIGN: Retrospective single-center observational case series. PARTICIPANTS: One hundred fifty highly myopic participants who were older than 50 years with and without an MRS were studied. High myopia was defined as an eye with an axial length of more than 26.5 mm. METHODS: All participants underwent UWF OCT imaging with a scan width of 23 mm and a depth of 5 mm using a prototype swept-source OCT device. The vitreoretinal adhesions to the foveal retina and retinal vessels and paravascular abnormalities, including paravascular retinal cysts, paravascular retinoschisis, and paravascular lamellar holes, were analyzed in the UWF OCT images. The findings in eyes with an MRS were compared with those in eyes without an MRS. MAIN OUTCOME MEASURES: The relationships between MRS and vitreal adhesions to the retinal vessels or to the fovea were determined. RESULTS: An MRS was found in 49 of the 150 eyes (33%). Vitreal adhesions to the retinal vessels were found more frequently in eyes with an MRS than in eyes without an MRS (63% vs. 44%; P = 0.04). In contrast, the number of eyes with adhesions to the fovea in eyes with an MRS was not significantly different from that in eyes without an MRS (57% vs. 59%). Paravascular lesions, for example, retinal cysts, retinoschisis, and lamellar holes, were more common in eyes with an MRS than in eyes without an MRS (71% vs. 36%, 61% vs. 17 %, and 20% vs. 8% [P < 0.001, P < 0.001, and P = 0.03], respectively). Multivariate analysis showed that the presence of paravascular vitreal adhesions was a significant predictor for MRS development (odds ratio, 2.56; P = 0.02). CONCLUSIONS: Paravascular vitreal adhesions may be related to the development of the different types of paravascular lesions including retinal cysts and retinoschisis, and play a more important role in the development of an MRS than vitreal adhesions to the fovea.

Emergency Ocular Ultrasound - Common Traumatic and Non-Traumatic Emergencies Diagnosed with Bedside Ultrasound.

Point-of-care ocular ultrasound (POCOUS) in the ambulatory and critical care setting has become an invaluable diagnostic tool for patients presenting with traumatic or atraumatic vision and ocular complaints. Sonographic bedside evaluation is intuitive and easy to perform and can accurately diagnose a variety of pathologies. These include detachment or hemorrhage of the retina or vitreous, lens dislocation, retrobulbar hematoma or air, as well as ocular foreign bodies, infections, tumors, and increased optic nerve sheath diameter that can be assessed in the setting of suspected increased intracranial pressure. The ocular anatomy is easy to visualize with sonography, as the eye is a superficial structure filled with fluid. Over the last two decades, a large number of scientific publications have documented that POCOUS in emergent or critical care settings is an accurate diagnostic tool and expands and improves emergency diagnosis and management. This article will review POCOUS exam techniques as well as normal sonographic findings and common pathologies.

Extending the Reach and Task-Shifting Ophthalmology Diagnostics Through Remote Visualisation.

Driven by the global increase in the size and median age of the world population, sight loss is becoming a major public health challenge. Furthermore, the increased survival of premature neonates in low- and middle-income countries is causing an increase in developmental paediatric ophthalmic disease. Finally, there is an ongoing change in health-seeking behaviour worldwide, with consequent demand for increased access to healthcare, including ophthalmology. There is therefore the need to maximise the reach of resource-limited ophthalmology expertise in the context of increasing demand. Yet, ophthalmic diagnostics critically relies on visualisation, through optical imaging, of the front and of the back of the eye, and teleophthalmology, the remote visualisation of diagnostic images, shows promise to offer a viable solution.In this chapter, we first explore the strategies at the core of teleophthalmology and, in particular, real-time vs store-and-forward remote visualisation techniques, including considerations on suitability for different tasks and environments. We then introduce the key technologies suitable for teleophthalmology: anterior segment imaging, posterior segment imaging (retinal imaging) and, briefly, radiographic/tomographic techniques. We highlight enabling factors, such as high-resolution handheld imaging, high data rate mobile transmission, cloud storage and computing, 3D printing and other rapid fabrication technologies and patient and healthcare system acceptance of remote consultations. We then briefly discuss four canonical implementation settings, namely, national service provision integration, field and community screening, optometric decision support and virtual clinics, giving representative examples. We conclude with considerations on the outlook of the field, in particular, on artificial intelligence and on robotic actuation of the patient end point as a complement to televisualisation.

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.

In this special issue of the American Journal of Medical Genetics, Part C, we explore the ever-expanding field of Ophthalmic Genetics. The eye is unique among organs for its accessibility to physical examination, permitting exploration of every tissue by slit lamp microscopy, ophthalmoscopy, and imaging including color and autofluorescent photography, ultrasound, optical coherence tomography (OCT), electrophysiology, and adaptive optics confocal and scanning laser ophthalmoscopy. This accessibility permits a variety of surgical and nonsurgical treatments, including the first FDA-approved gene therapy, voretigene neparvovec-rzyl for RPE65-associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how heritable ophthalmic disorders are recognizable and accessible to clinical geneticists as well as ophthalmologists.

RASopathies.

RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Mosaic RASopathies can present as localized cutaneous lesions like epidermal nevi and nevus sebaceous, or more extensive conditions such as encephalocraniocutaneous lipomatosis. We review the heterogenous presentation of RAS mutations, discuss new targeted therapies, and highlight areas of uncertainty, including carcinogenesis risk and appropriate screening.

How to approach complications of acute rhinosinusitis in children?

Intraorbital and intracranial complications of acute rhinosinusitis (ARS) are uncommon, but potentially life threatening. Signs of progression of ARS should be recognized early to allow timely surgical treatment in order to avoid irreversible lesions such as vision loss and neurological deficits. In this case series, we provide an overview of 6 representative cases who presented at our tertiary center (2017-2018). The aim of this case series is (1) to draw new attention to the clinical manifestations and management of these complications, since even in highly-developed medical settings we still observe permanent sequellae due to delayed or inadequate treatment, (2) to give an updated analysis of the guidelines, stressing the low threshold for endoscopic sinus surgery, even in children, (3) to underline the benefits of a multidisciplinary approach in these young patients.