International Ophthalmology Clinics最新文献_第2页

Update on Congenital Cranial Dysinnervation Disorders (CCDDs). 先天性颅神经支配障碍（ccdd）最新进展。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000602

Kathleen Aufderheide, Mary C Whitman

{"title":"Update on Congenital Cranial Dysinnervation Disorders (CCDDs).","authors":"Kathleen Aufderheide, Mary C Whitman","doi":"10.1097/IIO.0000000000000602","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000602","url":null,"abstract":"Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies.","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"66 2","pages":"180-186"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147498945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nonorganic Ophthalmic Conditions in Children. 儿童非器质性眼病。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000607

Fannie Nadeau, Mathieu Fradet, Shannon Beres

引用次数: 0

Evaluation of a Child With Optic Atrophy. 儿童视神经萎缩的评估。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000608

Kyle Hatley Koester, Lauren Claire Ditta

引用次数: 0

Evaluation of the Child With Nystagmus: What to Do in the Age of Genetic Testing. 儿童眼球震颤的评估：在基因检测的时代该怎么做。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000618

Moutaz Rawashdeh, Veeral S Shah

引用次数: 0

Using Optical Coherence Tomography in Pediatric Neuro-ophthalmology. 光学相干断层扫描在小儿神经眼科学中的应用。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000615

Hannah Rose Hashimi Tea, Keely Roberson, Mays El-Dairi

{"title":"Using Optical Coherence Tomography in Pediatric Neuro-ophthalmology.","authors":"Hannah Rose Hashimi Tea, Keely Roberson, Mays El-Dairi","doi":"10.1097/IIO.0000000000000615","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000615","url":null,"abstract":"Optical coherence tomography (OCT) has transformed adult neuro-ophthalmology, but pediatric adoption has lagged because of perceived technical, financial, and practical barriers. This chapter provides a pragmatic framework for integrating OCT into pediatric and pediatric neuro-ophthalmology clinics, emphasizing how to obtain reliable images in awake children and how to interpret them. We first review technical aspects of tabletop and handheld OCT in children, including positioning, fixation strategies, and when to prioritize single-line macular or optic nerve head B-scans over full segmented protocols. We then outline key clinical modalities: single-line foveal scans for \"in vivo histology\" and ganglion cell layer/inner nuclear layer (GCL/INL) ratio screening; single-line optic nerve head (ONH) scans to assess Bruch membrane contour and opening size; ONH cube maps for papilledema versus pseudopapilledema; macular cube maps with segmentation to detect retinotopic patterns of GCL loss; and strategies to correct RNFL interpretation for axial length. Using a structured table-based approach, we show how combined RNFL and GCL measurements narrow the differential diagnosis and guide urgency and systemic workup in children with decreased vision and normal, swollen, or atrophic optic nerves. Disease-focused sections illustrate OCT applications in papilledema, pseudopapilledema, optic neuritis, neuroretinitis, optic pathway glioma, optic atrophy (including INL microcysts), infantile nystagmus, and congenital optic nerve anomalies. Throughout, we highlight pitfalls such as pseudonormalization of the RNFL, segmentation errors in high-grade edema or anomalous discs, and misinterpretation in highly ametropic eyes. The chapter aims to make OCT a routine, child-friendly extension of the neuro-ophthalmic exam.","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"66 2","pages":"140-164"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147498992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Updates on Pediatric Optic Neuritis. 儿童视神经炎的最新进展。

International Ophthalmology Clinics Pub Date : 2026-04-01 Epub Date: 2026-03-23 DOI: 10.1097/IIO.0000000000000605

Victoria Cegielski, Meagan Y Shinbashi, Gillian R Paton

引用次数: 0

Autoimmune Optic Neuropathy: Pathogenesis, Diagnosis, and Therapeutic Advances. 自身免疫性视神经病变：发病机制、诊断和治疗进展。

International Ophthalmology Clinics Pub Date : 2026-01-01 Epub Date: 2025-12-23 DOI: 10.1097/IIO.0000000000000596

Yan Yan

引用次数: 0

Neuromyelitis Optica Spectrum Disorder. 神经脊髓炎视谱障碍。

International Ophthalmology Clinics Pub Date : 2026-01-01 Epub Date: 2025-12-23 DOI: 10.1097/IIO.0000000000000595

Negar Moheb, John J Chen

引用次数: 0

Myasthenia Gravis - An Updated Review. 重症肌无力-最新综述。

International Ophthalmology Clinics Pub Date : 2026-01-01 Epub Date: 2025-12-23 DOI: 10.1097/IIO.0000000000000600

Shruthi Harish Bindignavile

{"title":"Myasthenia Gravis - An Updated Review.","authors":"Shruthi Harish Bindignavile","doi":"10.1097/IIO.0000000000000600","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000600","url":null,"abstract":"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.","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"66 1","pages":"55-61"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ocular and Neuro-Ophthalmic Manifestations of Chronic Inflammatory Demyelinating Polyneuropathy. 慢性炎性脱髓鞘性多神经病变的眼神经表现。

International Ophthalmology Clinics Pub Date : 2026-01-01 Epub Date: 2025-12-23 DOI: 10.1097/IIO.0000000000000604

Sanjana Jaiswal, Samir A Cayenne, Andrew G Lee, Karl Golnik

{"title":"Ocular and Neuro-Ophthalmic Manifestations of Chronic Inflammatory Demyelinating Polyneuropathy.","authors":"Sanjana Jaiswal, Samir A Cayenne, Andrew G Lee, Karl Golnik","doi":"10.1097/IIO.0000000000000604","DOIUrl":"https://doi.org/10.1097/IIO.0000000000000604","url":null,"abstract":"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.","PeriodicalId":14338,"journal":{"name":"International Ophthalmology Clinics","volume":"66 1","pages":"37-42"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0