BACKGROUND: We describe the outcomes and long-term follow-up of treatment with anterior orbitotomy with superior oblique myectomy and trochlear resection for superior oblique myokymia. METHODS: Single-center case report...BACKGROUND: We describe the outcomes and long-term follow-up of treatment with anterior orbitotomy with superior oblique myectomy and trochlear resection for superior oblique myokymia. METHODS: Single-center case report and long-term follow-up of 3 previously published cases of superior oblique myokymia treated with superior oblique myectomy and trochlear resection. Previously reported patients were contacted for long-term follow-up. A fourth patient's complex clinical course is detailed. The surgical procedure is described and contrasted with alternative approaches. RESULTS: Four patients with refractory oscillopsia were treated. Symptom duration before presentation to the authors ranged from 10 to 22 years. All 4 patients had failed medical therapy; 3 of 4 had recurrent myokymia after prior superior oblique tenectomy; 1 of 4 had persistent symptoms despite 3 transcranial microvascular decompressions. After superior oblique myectomy and trochlear resection, all 4 patients reported sustained, complete resolution of oscillopsia in postoperative follow-up of 22, 17, 16, and 2 years. Three of 4 patients did not require additional strabismus surgery. Three of 4 patients reported mild postsurgical supra- and infratrochlear hypesthesia but deemed the symptoms not bothersome. CONCLUSIONS: Superior oblique myectomy and trochlear resection is a surgical option for patients with superior oblique myokymia unresponsive to, or intolerant of, medical therapy. It can be used if superior oblique tenectomy fails, or it can be considered as primary surgical management. Further strabismus surgery may be required after this procedure. If used primarily, compensatory inferior oblique weakening should be planned, as it is following primary superior oblique tenectomy. In our view, the orbital approach is preferable to transcranial microvascular decompression.
BACKGROUND: Wolfram syndrome type 1 (WS1), or "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound he...BACKGROUND: Wolfram syndrome type 1 (WS1), or "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound heterozygous autosomal recessive (AR), or rarely autosomal dominant mutations in the WFS1 gene. Isolated OA with adult-onset, milder phenotypes in WS1 is rare and typically associated with biallelic AR mutations. We describe 7 patients of pauci-syndromic WS1 presenting with adult-onset OA and compare parameters of visual function with other OA-predominant syndromes. METHODS: A retrospective review was performed identifying records of patients seen at our institution from January 1, 2020, through December 31, 2024, who were found to have OA secondary to mutations in OPA1 (n = 9), WFS1 (n = 7), POLG (n = 3), mutations causing Leber hereditary optic neuropathy (LHON) (n = 17) or isolated OA from other genetic causes (n = 7). Patients were excluded who harbored confounding causes of vision loss and nongenetic causes of OA. Clinical data of visual function were recorded, including mean deviations and foveal sensitivities on automated visual fields (AVF), and ganglion cell complex (GCC) and peripapillary retinal nerve fiber layer (RNFL) thickness on optical coherence tomography (OCT). Visual acuities from initial neuro-ophthalmology consultation were recorded in logMAR format. Statistical analysis was performed on continuous variables. This study was granted exempt status by our institutional IRB. RESULTS: Compared with other OA syndromes, patients with LHON had the most severe average AVF and foveal sensitivity depressions and the lowest presenting logMAR acuity. Patients with WS1 in our cohort had significantly later onset of symptoms and delayed presentation compared with other OA syndromes. Patients with WS1 were significantly more likely to present with arcuate scotomas compared with other genetic OA syndromes, while patients with LHON and patients with OPA1 mutations (autosomal dominant optic atrophy [ADOA]) presented commonly with central scotomas and blind spot enlargement, respectively. WS1 diagnosis was not significantly associated with any specific pattern of thinning on OCT of the RNFL or GCC. ADOA diagnosis was associated with the most peripapillary RNFL thinning overall of all OA syndromes, most significantly in the superior and inferior quadrants. CONCLUSIONS: Our cohort of patients with WS1 showed uncharacteristically mild vision loss and minimal syndromic features, suggesting that a milder alternative phenotype with WFS1 mutations is possible in contrast to the traditional DIDMOAD syndrome. Compared with other OA syndromes, these patients with WS1 showed significant associations with arcuate visual field defects and trends toward superior/inferior peripapillary RNFL thinning. This suggests that relative preservation of papillomacular bundle fibers and thus milder central visual acuity loss may be a unifying feature in their phenotype. This series expands the clinical spectrum of WS1 and should encourage further work to study the pathogenic role of wolframin in vision loss. Clinicians should consider Wolfram syndrome in cases of adult-onset, symmetric, near-isolated OA, especially in cases with arcuate field defects, which are more commonly seen than in other genetic syndromes.
Liang A, Bicknell BT, Zhong Manis JR
… +8 more, Chishom H, Heo Y, Dzubinski L, Aaserud T, Massoumi S, Srithanka T, Tauscher R, Longmuir R
J Neuroophthalmol
· 2026 Jun · PMID 41411083
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BACKGROUND: Although neuro-ophthalmology specialists must complete a fellowship following either an ophthalmology or neurology residency, the impact of these distinct residency training pathways on professional character...BACKGROUND: Although neuro-ophthalmology specialists must complete a fellowship following either an ophthalmology or neurology residency, the impact of these distinct residency training pathways on professional characteristics, academic advancement, and research productivity remains underexplored. This analysis examines demographic, academic, leadership, and research trends among neuro-ophthalmology specialists based on their residency training type, aiming to determine whether training type(s) correlate with future career development in academic neuro-ophthalmology. METHODS: Data were collected from publicly accessible websites of US academic institutions and verified using the Fellowship and Residency Electronic Interactive Database. Variables included demographics (sex, additional advanced degrees, years since residency graduation), academic rank, leadership positions, and research productivity (publications, citations, and h-index). Statistical comparisons between training groups were conducted using chi-square tests for categorical variables and Kruskal-Wallis tests for continuous variables. RESULTS: Among 312 neuro-ophthalmology specialists, 224 (71.8%) were trained in ophthalmology residencies and 88 (28.2%) in neurology residencies. Most were male (64.1%) with no significant differences in sex between the groups. Ophthalmology-trained specialists had more years since residency (median: 19 vs 11, P = 0.003) and were more likely to have completed additional fellowships (36.2% vs 3.4%, P < 0.001). Since 2010, neurology-trained neuro-ophthalmologists have comprised a growing proportion of new practicing neuro-ophthalmologists. Academic rank distribution was similar between the groups, but leadership roles were more often held by ophthalmology-trained specialists (43.8% vs 30.7%, P = 0.20). Research productivity metrics, including publication count, citations and h-index, were comparable between the groups. CONCLUSIONS: This study underscores differences in training, career entry, and leadership roles between ophthalmology- and neurology-trained neuro-ophthalmologists, offering insights for workforce planning amid ongoing physician shortages.
BACKGROUND: Optic nerve sheath enhancement (ONSE) on MRI is associated with a range of pathological conditions but may also occur in individuals without optic nerve disease. This study aimed to determine the prevalence,...BACKGROUND: Optic nerve sheath enhancement (ONSE) on MRI is associated with a range of pathological conditions but may also occur in individuals without optic nerve disease. This study aimed to determine the prevalence, sensitivity, and specificity of ONSE among patients with and without known optic nerve pathology and to assess the impact of MRI field strength and demographic factors on ONSE interpretation. METHODS: This retrospective study included 115 patients with either known pathologic enhancement or no pathology who underwent MRI of the orbits between January 2010 and June 2023 at a single academic center. MRI scans were reviewed by a blinded neuroradiologist for presence or absence of ONSE. Patient demographics and MRI technical details, including field strength (1.5T or 3T), were recorded. Diagnostic performance metrics (sensitivity, specificity, positive predictive value [PPV], negative predictive value [NPV], accuracy) were calculated overall and stratified by MRI strength. RESULTS: Among 115 patients (median age 63.2 years, 68% female, 90% White), ONSE was falsely identified in 7% of controls and missed in 13% of cases with known pathology. Overall, ONSE detection yielded a sensitivity of 87% and specificity of 93%. For 3T MRI, sensitivity was 100% and specificity was 90%; for 1.5T MRI, sensitivity was 75% and specificity 95%. PPV remained low across all groups, with highest NPV seen in 3T imaging (100%). No significant influence of age, sex, or race on ONSE detection was observed. CONCLUSIONS: ONSE can be seen in a small proportion of patients without optic nerve pathology and may be missed in subtle disease, emphasizing the importance of clinical correlation. Higher field strength MRI may improve sensitivity for detecting pathologic ONSE but can have false positives. These findings underscore the need for cautious interpretation of ONSE, particularly in asymptomatic individuals or in the context of high-resolution imaging.
BACKGROUND: Virtual reality-based visual field testing may offer an alternative to traditional Humphrey visual field testing, but the performance of such tests in detecting visual field abnormalities for patients with ne...BACKGROUND: Virtual reality-based visual field testing may offer an alternative to traditional Humphrey visual field testing, but the performance of such tests in detecting visual field abnormalities for patients with neurosurgical diagnoses has not previously been established. METHODS: Patients presenting to neuro-ophthalmology clinic for visual field testing for neurosurgical diagnoses completed both the Humphrey Visual Field Analyzer (HVF) 30-2 SITA fast test and the Olleyes Advanced Vision Analyzer-Virtual Reality Perimeter (OE) 30-2 fast test during the same visit. Pearson correlation was used to compare mean deviation (MD) and pattern standard deviation (PSD) between the HVF and OE tests. A Bland-Altman analysis was performed, and 95% limits of agreement (LOA) were calculated to compare agreement of MD and PSD between OE and HVF tests. The sensitivity, specificity, positive predictive value, and negative predictive value of the OE test were calculated for detecting a clinically significant abnormal test on HVF testing. RESULTS: Of 47 subjects recruited, the mean (SD) age was 54 (15) years, with 25 men. HVF testing resulted in 24 clinically significant abnormal findings. The R-squared for the Pearson correlation of MD and PSD between the HVF and OE tests were 0.45 and 0.79, respectively. Bland-Altman analysis of 95% LOA of HVF and OE tests were -10.42 to 11.16 (bias 0.37) for MD and -4.48 to 4.30 (bias -0.09) for PSD. The OE test had a sensitivity of 83.8% (95% CI 65.5%-92.4%) and specificity of 94.4% (95% CI 74.2%-99.7%) for detecting a clinically significant abnormal visual field finding on HVF testing. The positive predictive value of a clinically significant abnormal finding on OE testing was 96% (95% CI 80.5%-99.8%), for finding a clinically significant abnormal finding on HVF testing. The negative predictive value of no clinically significant abnormal finding on OE testing was 77.3% (95% CI 56.6%-89.9%). CONCLUSIONS: The OE device provides visual field results that correlate well with HVF testing and can be used as a screening test for visual field defects in patients with brain tumors. However, the moderate sensitivity for detecting a clinically relevant field deficit for the Olleyes tests warrants clinical discretion and potential repeat visual field testing with the gold standard HVF in patients with a high suspicion for visual field loss.
BACKGROUND: The incidence and clinical characteristics of adult-onset abnormal spontaneous eye movements of central origin remain poorly defined. METHODS: We conducted a retrospective, population-based study using the Ro...BACKGROUND: The incidence and clinical characteristics of adult-onset abnormal spontaneous eye movements of central origin remain poorly defined. METHODS: We conducted a retrospective, population-based study using the Rochester Epidemiology Project to identify all adults (age ≥18 years) in Olmsted County, MN, diagnosed with nystagmus or saccadic intrusions between 1970 and 2019. Cases involving childhood-onset nystagmus, physiologic, or peripheral vestibular nystagmus, as well as those with insufficient diagnostic information, were excluded. Demographics, clinical, and imaging data were collected, including nystagmus types, characteristics, and outcomes. RESULTS: A total of 208 patients were identified for the 50-year period, yielding a median annual incidence of 4.65 per 100,000 adults. The mean age at diagnosis was 56.2 ± 19.2 years and 43.3% were female. Gaze-evoked nystagmus (46.2%) was the most frequent subtype, followed by torsional (25.0%), downbeat (11.5%), and upbeat nystagmus (8.7%). The cerebellum was the most commonly affected region on neuroimaging, and strokes/transient ischemic attacks were the leading etiology. Specific lesion-nystagmus correlations included pendular and abducting nystagmus with pontine lesions ( P = 0.009 and <0.001, respectively), convergence-retraction nystagmus with midbrain ( P = 0.036), and thalamic lesions ( P = 0.007). Torsional nystagmus was most frequently associated with ischemic strokes ( P = 0.045), downbeat nystagmus (DBN) with central nervous system malformations ( P = 0.008), and abducting nystagmus with demyelinating diseases ( P < 0.001). At follow-up visits, approximately 60% of cases showed complete or partial improvement. Factors independently associated with nystagmus recovery included skew deviation (adjusted hazard ratio [aHR] 2.667 [95% confidence interval [CI], 1.234-5.768])), toxic-metabolic cause (aHR 3.378 [95% CI, 1.816-6.284]), absence of DBN (aHR 0.142 [95% CI, 0.050-0.407]), and absence of neurodegeneration (aHR 0.050 [95% CI, 0.007-0.372]). CONCLUSIONS: This is the first population-based study describing the incidence and characteristics of adult-onset central nystagmus and saccadic intrusions in North America. Distinct anatomical and etiologic associations were identified across nystagmus subtypes. Poorer recovery was linked to neurodegenerative diseases, and DBN, whereas nystagmus improvement was associated with toxic-metabolic cause and presence of skew deviation.
BACKGROUND: Retinal ganglion cells (RGCs) are diverse. Various types play specialized roles in vision, and they may be differentially susceptible in optic nerve disease where their death causes vision loss. RGCs are acco...BACKGROUND: Retinal ganglion cells (RGCs) are diverse. Various types play specialized roles in vision, and they may be differentially susceptible in optic nerve disease where their death causes vision loss. RGCs are accordingly compelling targets for novel therapeutic strategies, and so it is clinically imperative to be able to evaluate different types individually in the human eye. This is complex and represents an unmet need for both basic and clinical research. We explore this need, survey emerging approaches, and consider their translational potential. METHODS: We conducted focused searches of online databases (PubMed, Embase, and Google Scholar) using relevant search terms for articles published until January 2025, screened abstracts for relevant publications, and citation searched discovered literature. RESULTS: Many approaches exist to classify human RGCs into types. Evidence suggests that some types are differentially susceptible to ocular disease, but these patterns are not firmly understood. Methods are emerging to evaluate individual RGC types in the human retina, alongside novel, potentially sight-restoring therapies that will depend on these insights for their full realization. CONCLUSIONS: An integrated classification of RGC types, and refinement of methods to assess their status in the human eye, is clinically vital. Uncovering their roles can inform our understanding of disease biology, nominate biomarkers, and assist the development of therapies that protect, repair, or replace RGCs. The ongoing development of these techniques is imperative to the success of novel therapies for ocular disease.
BACKGROUND: According to the World Health Organization, infections, particularly sepsis, are linked to over 20% mortality worldwide and are leading cause of morbidity. A variety of infections have neuro-ophthalmic manife...BACKGROUND: According to the World Health Organization, infections, particularly sepsis, are linked to over 20% mortality worldwide and are leading cause of morbidity. A variety of infections have neuro-ophthalmic manifestations. The profile of infectious agents, clinical manifestations, severity, and prognosis of these diseases are highly heterogeneous, and it is therefore difficult to make generalized statements about management. EVIDENCE ACQUISITION: Available literature with regard to individual infectious agents and their neuroophthalmic manifestations or complications was searched using electronic databases such as PubMed, MEDLINE, Scopus, ProQuest, and Embase. The current study is a review of the literature along with the authors' personal experience in this field. RESULTS: In this review, we describe the key neuro-ophthalmic manifestations of common bacterial, fungal, viral (except HIV, opportunistic infections, and COVID-19 virus), parasitic, and protozoal infections using illustrative examples. CONCLUSIONS: Infections may involve the afferent and efferent visual pathways, as well as higher order visual processing functions. They can directly invade the eye and the brain or may cause damage due to inflammation, necrosis, vascular compromise, and postinfective demyelination. With the shifting geographic boundaries and widespread international migration, the spectrum of infectious neuro-ophthalmic diseases is expanding. Clinical details, dedicated imaging, biochemical, serological, and at times histopathological confirmation aids in making prompt diagnosis.
BACKGROUND: To evaluate whether proliferative diabetic retinopathy (PDR) is associated with an increased risk of nonarteritic anterior ischemic optic neuropathy (NAION) and whether pan-retinal photocoagulation (PRP) alte...BACKGROUND: To evaluate whether proliferative diabetic retinopathy (PDR) is associated with an increased risk of nonarteritic anterior ischemic optic neuropathy (NAION) and whether pan-retinal photocoagulation (PRP) alters that risk. METHODS: A retrospective cohort study was conducted using the TriNetX global health research network. Adults (18 years and older) with ≥3 years of follow-up and no prior NAION were included. In Analysis 1, patients with PDR were compared with those with diabetes mellitus without diabetic retinopathy. In Analysis 2, patients with PDR who underwent PRP were compared with those who did not. Propensity score matching was controlled for demographics and comorbidities. The primary outcome was incident NAION within 3 years. RESULTS: After matching, 30,588 patients were included in each group for Analysis 1. At 3 years, NAION incidence was significantly higher in the PDR cohort than the DM without DR group (0.24% vs 0.09%; HR 2.81, 95% CI 1.80-4.40; P < 0.001). In Analysis 2, 8,126 patients were included in each group. No significant difference in NAION risk was observed between PRP and No PRP cohorts at any time point (3-year incidence: 0.34% vs 0.31%; HR 1.12, 95% CI 0.65-1.92; P = 0.680). CONCLUSIONS: PDR is associated with increased NAION risk, suggesting a role for local microvascular changes. PRP does not significantly alter NAION risk, supporting its safety in this context. Further studies with imaging data are warranted to clarify underlying mechanisms.