Abstract: Autoimmune retinopathy (AIR) refers to both paraneoplastic and non-paraneoplastic forms of a rare, acquired retinal degeneration thought to be mediated by the production of antiretinal antibodies. However, the mechanisms underlying AIR pathogenesis are incompletely understood, and it remains a diagnosis of exclusion given the lack of definitive testing as well as its protean clinical presentation. This review summarizes the current literature on the epidemiology, diagnosis, and management of AIR, with a focus on non-paraneoplastic disease and the potential role of immunomodulatory therapy. A recent expert consensus statement on diagnosis and management of non-paraneoplastic AIR served as a framework for interpreting the limited data available, a process that was complicated by the small sample sizes, heterogeneity, and retrospective nature of these studies. Additional work is needed to characterize AIR patients on the basis of cytokine and immunogenetic profiling; to establish the pathogenicity of antiretinal antibodies; and to standardize treatment regimens as well as assessment of clinical outcomes.
Abstract: Acute retinal necrosis (ARN) is a devastating syndrome characterized by panuveitis, retinal necrosis, and a high rate of retinal detachment that may result in poor visual outcomes if not promptly diagnosed and treated. ARN is most commonly caused by viruses within the herpesvirus family. Etiologies include varicella-zoster virus, herpes simplex virus, and cytomegalovirus, and may be promptly diagnosed by polymerase chain reaction testing of aqueous or vitreous fluid. The true incidence of ARN is not known due to its rarity; as a result, clinical treatment is often guided by retrospective case series, case reports, and expert opinion. Standard of care has evolved over time but currently includes a combination of systemic and intravitreal antiviral in conjunction with topical or oral steroids and surgical therapy as needed. Combination therapy may reduce the rate of severe vision loss and increase the rate of visual acuity gain, although further studies are needed in this area. In particular for patients with mild to moderate disease, combination therapy may reduce the rate of retinal detachment. Adjunctive therapies including oral corticosteroid and prophylactic laser barricade are incompletely studied, but corticosteroid in particular, may reduce inflammation, which also is involved in the severe disease pathogenesis observed in ARN. This review discusses the advances in diagnosis and treatment of ARN, including management with combination antiviral medication and surgical interventions.
Abstract: Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Herein we present in a comprehensive and concise manner the imaging findings of: (I) macular dystrophies (MD) [Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), pattern dystrophy (PRPH2), Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)], (II) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4 and RPGR), (III) cone dysfunction syndromes [achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6], blue-cone monochromatism (OPN1LW/OPN1MW array), oligocone trichromacy, bradyopsia (RGS9/R9AP) and Bornholm eye disease (OPN1LW/OPN1MW), (IV) Leber congenital amaurosis (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (V) rod-cone dystrophies [retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)], (VI) rod dysfunction syndromes (congenital stationary night blindness, fundus albipunctatus (RDH5), Oguchi disease (SAG, GRK1), and (VII) chorioretinal dystrophies [choroideremia (CHM), gyrate atrophy (OAT)].
Abstract: Uveitis can cause significant visual morbidity and often affects younger adults of working age. Anterior uveitis, or inflammation limited to the anterior chamber (AC), iris, and/or ciliary body comprises the majority of uveitis cases. Current clinical biomarkers and conventional grading scales for intraocular inflammation are mostly subjective and have only a moderate degree of interobserver reliability, and as such they have significant limitations when used in either clinical practice or research related to uveitis. In recent years, novel imaging techniques and applications have emerged that can supplement exam findings to detect subclinical disease, monitor quantitative biomarkers of disease progression or treatment effect, and provide overall a more nuanced understanding of disease entities. The first part of this review discusses automated algorithms for optical coherence tomography (OCT) image processing and analysis as a means to assess and describe intraocular inflammation with higher resolution than that afforded by conventional AC and vitreous cell ordinal grading scales. The second half of the review focuses on anterior segment OCT and OCT angiography (OCTA) in scleritis and iritis, especially with regards to their ability to directly image and characterize the pathologic structures and vasculature underlying these diseases. Finally, we briefly review experimental animal research with promising but more distant human clinical applications, including in vivo molecular microscopy of inflammatory markers and investigation of gold nanoparticles as a potential contrast agent in OCT imaging. Imaging modalities are discussed in the broader context of trends within the field of uveitis towards greater objectivity and quantifiable outcome measures and biomarkers.
Abstract: Vogt-Koyanagi-Harada syndrome (VKH) is a bilateral granulomatous panuveitis associated with serous retinal detachments and vitritis, and can be associated with extraocular manifestations of meningismus, poliosis, vitiligo, hearing loss, and headaches. It is mediated by CD4+ T cells that target melanocytes in the eye, ear, meninges, and skin. It classically presents in 4 different phases: prodromal, uveitic, convalescent, and recurrent. There have been considerable advances in our understanding of the disease in recent years, and options for treatment have also expanded beyond systemic corticosteroids though these remain the mainstay of therapy in patients with VKH. This brief review will focus on updates in the diagnosis and treatment of VKH, specifically advances in imaging techniques including the use of optical coherence tomography angiography (OCTA) and enhanced depth imaging (EDI) optical coherence tomography (OCT). OCT parameters that are diagnostically predictive of acute VKH compared to other exudative maculopathies include the presence of subretinal membranous structures, a high retinal detachment, subretinal hyperreflective dots, and RPE folds. Evaluations of choroidal thickness using EDI-OCT demonstrate predominant involvement of the outer choroid in the acute inflammatory phase of VKH, consistent with histopathological analysis. OCTA may emerge as an alternative to fluorescein angiography (FA) and indocyanine angiography (ICGA) but is limited at this time due to its small field of view. While the mainstay of treatment of acute VKH continues to be systemic corticosteroids, biological response modifiers (BRMs) such as adalimumab and infliximab have been shown to be effective in the management of adult and pediatric VKH with one benefit being a faster onset of action compared to conventional immunosuppression. Literature Search: A literature search was done in PubMed using the words “Vogt Koyanagi Harada” “imaging” “diagnosis” “treatment” “therapy “posterior uveitis”.
Abstract: Optical coherence tomography (OCT) is a technology that is widely used to assess structural abnormalities in the retina for a variety of pediatric conditions. The introduction of this instrument has allowed for widespread access to minimally invasive standardized, reproducible quantified structural assessments of the optic nerve and retina. This has had important implications in pediatric optic neuropathies, populations in whom monitoring of disease activity is essential to making treatment decisions. OCT has had particular relevance for inflammatory optic neuropathies, as onset of an inflammatory optic neuropathy may herald the onset of a chronic inflammatory disorder of the central nervous system (CNS) such as multiple sclerosis, neuromyelitis optica spectrum disorder (aquaporin 4 antibody positive), and myelin oligodendrocyte glycoprotein (MOG) associated disorders. This paper will focus on the application of OCT technology to this group of disorders in pediatrics. After reviewing pediatric-specific anatomic and practical issues pertinent to OCT, we will review knowledge related to the use of OCT in inflammatory pediatric optic neuropathies, with a focus on structural outcomes and their correlation with functional outcome metrics.
Abstract: Pediatric uveitis is an inflammatory ocular disease that can lead to sight-threatening complications. Pediatric patients have distinct challenges in the diagnosis and management of uveitis, secondary to difficulties in performing ophthalmic examinations in young children, delayed diagnosis due to lack of adherence with recommended screening schedules, medication side-effects, and increased burden of disease into adulthood. Measurement of outcomes in pediatric uveitis has traditionally relied upon the ophthalmic examination and general quality of life (QOL) measures. However, the ophthalmic examination does not take into account the impact of uveitis on a child’s QOL and general QOL measures do not adequately assess the specific effects of vision. Several vision-related quality of life (VR-QOL) instruments have been used to measure outcomes in both adults and children including: the National Eye Institute Visual Function Questionnaire (NEI VFQ-25), Vision-related Quality of Life of Children and Young People (VQoL_CYP), the Children’s Visual Function Questionnaire (CVFQ), and the Effect of Youngsters’ Eyesight on Quality of Life (EYE-Q). However, the NEI VFQ-25 is not a valid or applicable measure in children, and the VQoL_CYP and CVFQ are not uveitis specific and may not characterize disease specific burdens. The EYE-Q is the only uveitis-specific pediatric questionnaire that measures visual functioning and VR-QOL in 5–18 years old children and adolescents with uveitis. It has been shown to be a valid and reliable assessment tool in several cohorts of children with uveitis. A comprehensive assessment of the impact of uveitis on a child that includes a vision-specific measure, such as the EYE-Q, allows for better understanding of the true burden of uveitis in children. For this review, we describe traditional outcome measures in uveitis studies, general QOL measures and vision-specific measures in adults and in children.
