International Ophthalmology Clinics最新文献

Autoimmune optic neuropathy (AON) encompasses a heterogeneous group of immune-mediated optic nerve inflammatory disorders, characterized by progressive or recurrent visual loss with or without optic disc edema, and distinct autoantibody profiles and neuroimaging features. This review synthesizes current knowledge on AON, highlighting key advances in the discovery of disease-specific biomarkers [eg, aquaporin-4 (AQP4)-IgG for NMOSD, myelin oligodendrocyte glycoprotein (MOG)-IgG for MOG-associated disease (MOGAD), and glial fibrillary acidic protein (GFAP)-IgG for astrocytopathy], while neuroimaging and optical coherence tomography (OCT) aid subtype differentiation. Therapeutically, acute management relies on high-dose intravenous methylprednisolone (IVMP), with plasma exchange for steroid-refractory cases; long-term maintenance is subtype-tailored. Prognosis varies by subtype, with MOG-ON showing better recovery than AQP4-ON, and CRMP5-IgG-associated ON carrying poor outcomes. Even with breakthroughs in pathogenetic understanding and targeted treatments, challenges reinforce the importance of continued interdisciplinary research to optimize AON management.

Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune disease that predominantly affects the optic nerves and spinal cord, which is a distinct disease process from multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease. The most common neuro-ophthalmologic manifestation of NMOSD is atypical optic neuritis (ON), characterized by severe vision loss with a higher propensity toward bilateral involvement, longitudinal enhancement of the optic nerve, and chiasmal involvement than MS-related optic neuritis. Due to the severity of disease, high recurrence rate, and significant risk of permanent deficits, early recognition of neuro-ophthalmologic signs and short- and long-term management with immunosuppressive therapies is critical. In this article, we will review the characteristic neuro-ophthalmologic findings in NMOSD, serologic markers, neuroimaging findings, and current approaches to both acute and long-term treatment.

Myasthenia gravis (MG) is an autoimmune neuromuscular junction (NMJ) disorder characterized by fatigable weakness in skeletal and ocular muscles. The etiology is the presence of autoimmune antibodies against postsynaptic acetylcholine receptors (AChR) or other muscle-specific proteins. The result is muscle end plate dysfunction and weakness. While symptoms may be limited to ocular muscles (ocular MG/OMG), systemic generalization of symptoms (generalized MG/gMG) can frequently occur. Diagnosis relies on a history of fluctuating weakness, diurnal variation in muscle strength, physical examination signs of fluctuating muscle weakness, supported by serology and electrophysiologic studies. In its most severe form, called myasthenic crisis, weakness can involve respiratory muscles, and can cause life-threatening hypoxemia needing critical care monitoring and invasive ventilation. Management of MG is multimodal and may need a combination of acetyl cholinesterase inhibitors, immunomodulators such as steroids, and steroid-sparing agents, intravenous agents, such as intravenous immunoglobulin, or plasma exchange, rarely needing surgical options such as thymectomy. Recent advances have added novel therapeutics as viable treatment options.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy characterized by demyelination and axonal injury of peripheral nerves. While its hallmark presentation involves progressive sensorimotor deficits, an underrecognized subset of patients develop ocular and neuro-ophthalmic manifestations. These include optic neuritis, optic atrophy, vision loss, ophthalmoplegia, extraocular muscle enlargement with proptosis, intracranial hypertension, and corneal small fiber pathology. Electrophysiologic and imaging studies, including visual evoked potentials, optical coherence tomography, and corneal confocal microscopy, have further revealed subclinical involvement of the optic nerve and retina, underscoring an expanded disease spectrum beyond classic peripheral neuropathy. The pathophysiology is multifactorial, involving demyelination, inflammatory cell infiltration, and immune-mediated axonal injury, with evidence suggesting potential central nervous system and cranial nerve involvement. These atypical manifestations often mimic disorders such as multiple sclerosis, neuromyelitis optica spectrum disorders, or thyroid eye disease, complicating early diagnosis. Importantly, most cases respond to standard immunomodulatory therapies, including intravenous immunoglobulin, corticosteroids, and plasma exchange. Advances in ocular imaging and biomarker discovery provide promising avenues for earlier detection and monitoring of neuro-ophthalmic involvement. Recognition of ocular features in CIDP is essential for timely diagnosis and treatment. Interdisciplinary collaboration between neurologists and ophthalmologists can prevent vision-threatening complications, refine diagnostic accuracy, and optimize long-term outcomes. Future studies are warranted to elucidate the mechanisms underlying ocular involvement and to evaluate emerging targeted therapies that may improve prognosis in these atypical but clinically significant phenotypes.

Sarcoidosis is a systemic granulomatous disorder characterized by noncaseating granulomas. This review focuses on the pathophysiology, clinical spectrum, diagnostic strategies, and management of neuro-ophthalmic sarcoidosis. The pathogenesis involves immune dysregulation in genetically predisposed individuals exposed to environmental antigens, with granuloma formation as the hallmark. Neuro-ophthalmic involvement is classified into afferent, efferent, and general neurological categories. Afferent presentations include optic neuropathy, optic neuritis, chiasmopathy, papilledema, and visual field defects among others, while efferent signs include cranial neuropathies, ophthalmoplegia, dorsal midbrain syndrome, and more. Diagnostic evaluation includes MRI with contrast, cerebrospinal fluid analysis, chest imaging, and, where possible, tissue biopsy. Management primarily involves corticosteroids, with immunosuppressive and biological agents reserved for refractory cases. Early diagnosis and treatment initiation are crucial to preserve visual function and reduce relapse. Advances in biomarker discovery and imaging modalities hold promise for more accurate and earlier diagnosis. Given its protean manifestations and potential for vision-threatening complications, sarcoidosis remains a critical consideration in the differential diagnosis of unexplained neuro-ophthalmic symptoms.

Autoimmune encephalitides (AE) comprise a heterogeneous group of immune-mediated disorders characterized by inflammation of the central nervous system, frequently associated with antibodies targeting neuronal cell surface or intraneuronal proteins. Clinically, they manifest a wide range of neurological, psychiatric, and visual symptoms, many of which may be relatively specific to the underlying antibody subtype. The visual system is commonly affected, with disturbances involving either the afferent or efferent pathways. Efferent manifestations typically arise from brainstem or cerebellar involvement. Patients may present with ophthalmoparesis, resulting from cranial nerve dysfunction or abnormal ocular motor findings. These findings include various patterns of nystagmus, impaired smooth pursuit, dysmetric saccades, and other ocular motor abnormalities that reflect disruption of central gaze control mechanisms, which the patient may perceive as diplopia or oscillopsia. Afferent manifestations may include inflammatory processes such as optic neuritis or uveitis, leading to visual loss. In addition, papilledema secondary to intracranial hypertension can be observed in some cases. Cortical involvement can present as complex visual phenomena such as hallucinations, illusions, and higher-order perceptual deficits. These may include prosopagnosia, palinopsia, and simultanagnosia, indicating dysfunction in specialized visual processing areas. Recognizing the spectrum of visual disturbances in AE is clinically relevant, as it may guide early diagnosis, antibody testing, and targeted immunotherapy, ultimately improving patient outcomes.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) has emerged as a distinct demyelinating condition with unique clinical and radiographic characteristics that differentiate it from multiple sclerosis (MS) and aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD). This review provides a clinically focused update tailored for ophthalmologists, emphasizing the ocular manifestations, diagnostic workup, and current treatment strategies for MOGAD. Optic neuritis is the most common presenting symptom in MOGAD. It can frequently manifest as bilateral involvement or severe optic disc edema and often has a more favorable prognosis for visual recovery compared with AQP4-NMOSD. Recent advances in neuroimaging, optical coherence tomography (OCT), and the development of live cell-based antibody assays have significantly enhanced diagnostic accuracy and characterization of the disease. Differentiating features such as the absence of classic MS lesions on MRI, longitudinally extensive optic nerve involvement, and specific cerebrospinal fluid findings are essential for guiding diagnosis. Treatment strategies continue to evolve for MOGAD. High-dose corticosteroids remain the mainstay of acute management, whereas long-term immunotherapy, that is, intravenous immunoglobulin (IVIg), rituximab, and other steroid-sparing agents, has shown efficacy in reducing relapse risk. Optimal maintenance regimens are still under investigation, and treatment must be individualized based on relapse risk, availability, and tolerability. Rapid recognition and accurate diagnosis are critical for preventing permanent vision loss and neurological disability. This article aims to provide ophthalmologists with a practical reference for identifying, evaluating, and managing MOGAD, distinguishing it from other optic neuropathies, and implementing evidence-based treatment to improve patient outcomes.

The human body is endowed with an immune system that protects the body from infections, microbes, diseases, and external or foreign elements that could be harmful or disease producing. The human immune system is a complex amalgamation of cells, proteins, organs, and organ systems that fight these harmful agents and defend the body against them. When the immune system turns against itself or the body, it results in the development of autoimmune conditions wherein there is destruction of specific organs or systems, which threaten their normal functioning. Consequently, there is either reduced function or loss of function of the targeted area of the body. Autoimmune conditions can cause disruption of the neuro-ophthalmic pathway and threaten the central or peripheral vision, by targeting the brain, optic nerve, extraocular muscles, neuromuscular junctions, visual pathways, and sometimes spinal cord as well. The most important and common neuro-ophthalmic autoimmune conditions include, but are not limited to, multiple sclerosis (MS), neuromyelitis optica (NMO), myelin oligodendrocyte glycoprotein antibody disease (MOGAD), myasthenia gravis (MG), thyroid eye disease (TED), and giant cell arteritis (GCA).

Next-generation sequencing (NGS) has revolutionized cancer genomics, offering unparalleled insights into the molecular landscape of various malignancies, including ocular cancers. This review explores the role of NGS in ocular oncology, highlighting its impact on understanding genetic alterations, identifying biomarkers, and advancing personalized treatment approaches. Key applications in uveal melanoma, retinoblastoma, and other ocular tumors, including ocular adnexa lymphoma and IgG4-related ophthalmic disease are discussed, along with the challenges and future directions in the field. As sequencing technologies continue to evolve, integrating NGS into clinical practice promises to enhance early diagnosis, risk assessment, and therapeutic strategies in ocular oncology.

Management of retinoblastoma has evolved drastically with the advent of targeted chemotherapy, such as intra-arterial chemotherapy, intravitreal chemotherapy, and intracameral chemotherapy. Intravitreal chemotherapy has emerged as the frontline therapy for the management of vitreous seeding. It has also shown beneficial effects on subretinal seeding, the 2 major therapeutic challenges for globe salvage in retinoblastoma. The enhanced efficacy and safety of current intravitreal agents have led to improved globe and vision salvage, resulting in better survival outcomes. The authors discuss current trends, indications, and practice patterns of intravitreal chemotherapy for retinoblastoma, highlighting potential groundbreaking advancements, including the role of nanoparticle technology.