Abstract: The most prominent causes of loss of vision in individuals over 50 years include age-related macular degeneration (AMD), glaucoma, and diabetic retinopathy (DR). While it is important to screen for these diseases effectively, current eye care is not properly doing so for much of the population, resulting in unfortunate visual disability and high costs for patients. Innovative functional testing can be unified with other screening methods for a more robust and safer screening and prediction of disease. The goal in the creation of functional testing modalities is to develop highly sensitive screening tests that are easy to use, accessible to all users, and inexpensive. The tests herein are deployed on an iPad with easily understood and intuitive instructions for rapid, streamlined, and automatic administration. These testing modalities could become highly sensitive screenings for early detection of potentially blinding diseases. The applications from our collaborators at AMA Optics include a cone photostress recovery test for detection of AMD and diabetic macular edema (DME), brightness balance perception for optic nerve dysfunction and especially glaucoma, color vision testing which is a broad screening tool, and visual acuity test. Machine learning with the combined structural and functional data will optimize identification of disease and prediction of outcomes. Here, we review and assess various tests of visual function that are easily administered on a tablet for screening in primary care. These user-friendly and simple screening tests allow patients to be identified in the early stages of disease for referral to specialists, proper assessment and treatment.
Abstract: Pediatric glaucoma is a potentially sight-threatening disease and is considered the second leading cause of treatable childhood blindness. Pediatric glaucoma is a clinical entity including a wide range of conditions: primary congenital glaucoma, glaucoma secondary to ocular (e.g., aniridia, Peter’s anomaly), or systemic disease (e.g., Sturge Weber) and glaucoma secondary to acquired condition (pseudophakic, traumatic, uveitic glaucoma). The treatment algorithm of childhood glaucoma is a step-by-step approach, often starting with surgery, as in primary congenital glaucoma cases. Medical therapy is also crucial in the management of pediatric glaucoma. Here we reported the results of the randomized, controlled, clinical trials carried out in children treated with topical anti-glaucoma drugs. It is worth knowing that prostaglandin analogues showed an excellent systemic safety profile, while serious systemic events have been reported in children taking topical beta-blockers. Angle surgery is the first surgical option in patients diagnosed with primary congenital glaucoma, with ab interno and ab externo approaches showing similar outcomes. Trabeculectomy in children can be troublesome, as mitomycin C (MMC) can lead to bleb complications and a higher endophthalmitis rate than in adults. Glaucoma drainage devices (GDD) are no longer a last resort and can be considered a suitable option for the management of uncontrolled pediatric glaucoma after angle surgery failure.
Abstract: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, and juvenile idiopathic associated uveitis (JIA-U) is the most frequently noted extra-articular manifestation. JIA-U can present asymptomatically and lead to ocular complications, so regular screening and monitoring are needed to prevent potentially sight-threatening sequelae. Topical glucocorticoids such as prednisolone acetate are usually the first line of treatment for anterior uveitis associated with JIA-U, but long-term use may be associated with cataract, ocular hypertension and glaucoma. Disease modifying anti-rheumatic drugs (DMARDs) such as methotrexate allow tapering of the corticosteroids to prevent long-term complications. Biologic therapies have been increasingly used as targeted therapies for JIA-U, particularly monoclonal antibodies targeting the proinflammatory cytokine TNF-α such as adalimumab and infliximab. One recent, multicenter, prospective, randomized clinical trial provided evidence of the efficacy of adalimumab with methotrexate for JIA-U compared to methotrexate alone. Another clinical trial studying the interleukin-6 inhibitor tocilizumab for JIA-U showed promise in tapering topical corticosteroids. Additionally, JAK inhibitors are emerging biologic therapies for JIA-U in patients refractory to TNF-α inhibitors, with a clinical trial assessing the efficacy of baricitinib for JIA-U underway. While clinical trials on these novel biologics are limited, further investigation of these agents may provide additional therapeutic options for JIA-U.
Abstract: The rare disease of chronic infantile neurological cutaneous and articular (CINCA) syndrome, is caused by the over-secretion of interleukin (IL)-1β due to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes. In this report, we studied a 9-year-old girl with CINCA. The eyes were also involved and presented bilateral papilledema. Genetic testing revealed that the symptoms were caused by a novel gene mutation site (c.913G>A, p. D305N) in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA. The patient had the characteristic facial features, frontal fossa and saddle nose, manifested the generalized urticaria-like skin rash at two weeks after birth, periodic fever 6 months after birth, sensorineural deafness at 7 years old, and bilateral papilledema, aseptic meningitis and knee arthropathy at 9 years old. White cell counts, C-reactive protein increased and intracranial pressure raised to 300 mmH2O. The meningeal thickening enhanced by gadolinium in magnetic resonance imaging (MRI). Based on clinical features and genetic test, the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms. With 3-year follow-up, patient had no inflammatory flare-up with visual acuity improvement. The finding of novel genetic mutation site (p. D305N) in NLRP3 gene expanded genotype spectrum associated with CINCA. This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.
Abstract: Anthropometry can analyze the size, weight, and proportion of the human body objectively and quantitatively to supplement the visual assessment. Various non-invasive three-dimensional (3D) anthropometric techniques have been applied to assess soft tissues’ 3D morphology in the clinical practice. Among them, non-invasive stereophotogrammetry and laser scanning techniques are becoming increasingly popular in craniofacial surgery and plastic surgery. They have been applied for craniofacial growth estimation and morphometric investigation, genetic and acquired malformation diagnosis, as well as orthodontic or surgical treatment arrangement and outcome evaluation. However, few studies have been published for assessing the 3D morphology of soft tissues in the periorbital region. This paper reviews the studies involving the application and evaluation of the increasingly popular 3D photogrammetry in the periorbital region. These studies proposed detailed and standardized protocols for three-dimensionally assessing linear, curvilinear, angular, as well as volumetric measurements, and verified its high reliability in the periorbital region (even higher than caliper-derived direct measurements). In the future, reliable and accurate 3D imaging techniques, as well as standardized analyzing protocols, may find applications in following up morphological growth, preoperatively diagnosing and assessing patient periorbital conditions, planning surgical procedures, postoperatively evaluating treatment outcomes of a specific procedure, and comparing the differences in surgical results between various procedures, studies, as well as populations.
Abstract: Navigation technology in ophthalmology, colloquially called “eye-tracking”, has been applied to various areas of eye care. This approach encompasses motion-based navigation technology in both ophthalmic imaging and treatment. For instance, modern imaging instruments use a real-time eye-tracking system, which helps to reduce motion artefacts and increase signal-to-noise ratio in imaging acquisition such as optical coherence tomography (OCT), microperimetry, and fluorescence and color imaging. Navigation in ophthalmic surgery has been firstly applied in laser vision corrective surgery and spread to involve navigated retinal photocoagulation, and positioning guidance of intraocular lenses (IOL) during cataract surgery. It has emerged as one of the most reliable representatives of technology as it continues to transform surgical interventions into safer, more standardized, and more predictable procedures with better outcomes. Eye-tracking is essential in refractive surgery with excimer laser ablation. Using this technology for cataract surgery in patients with high preoperative astigmatism has produced better therapeutic outcomes. Navigated retinal laser has proven to be safer and more accurate compared to the use of conventional slit lamp lasers. Eye-tracking has also been used in imaging diagnostics, where it is essential for proper alignment of captured zones of interest and accurate follow-up imaging. This technology is not routinely discussed in the ophthalmic literature even though it has been truly impactful in our clinical practice and represents a small revolution in ophthalmology.
Perception is the ability to see, hear, or become aware of external stimuli through the senses. Visual stimuli are electromagnetic waves that interact with the eye and elicit a sensation. Sensations, indeed, imply the detection, resolution, and recognition of objects and images, and their accuracy depends on the integrity of the visual system. In clinical practice, evaluating the integrity of the visual system relies greatly on the assessment of visual acuity, that is to say on the capacity to identify a signal. Visual acuity, indeed, is of utmost importance for diagnosing and monitoring ophthalmological diseases. Visual acuity is a function that detects the presence of a stimulation (a signal) and resolves its detail(s). This is the case of a symbol like “E”: the stimulus is detected, then it is resolved as three horizontal bars and a vertical bar. In fact, within the clinical setting visual acuity is usually measured with alphanumeric symbols and is a three-step process that involves not only detection and resolution, but, due to the semantic content of letters and numbers, their recognition. Along with subjective (psychophysical) procedures, objective methods that do not require the active participation of the observer have been proposed to estimate visual acuity in non-collaborating subjects, malingerers, or toddlers. This paper aims to explain the psychophysical rationale underlying the measurement of visual acuity and revise the most common procedures used for its assessment.
