Journal of Neuro-Ophthalmology最新文献

Background: The aim of this study was to evaluate the retinal safety profile of flow-diverting stents in the treatment of carotid-ophthalmic aneurysms with ophthalmic artery coverage.

Methods: In this cohort study, patients treated with a flow-diverting stent for carotid-ophthalmic aneurysm were prospectively included from January 2021 to January 2023. A systematic ophthalmological examination was performed before and at 15 days and at 6 months after the procedure. We compared the retinal thickness and the vascular density of the retinal capillary plexuses using optical coherence tomography (OCT).

Results: Twenty-five patients were included (median age: 52.3 years, range: 36.6 to 76.4; women: 92.4%). Postoperative retinal events were reported in 24% patients (cotton wool spots in 6 patients [24%], retinal hemorrhages in 3 patients [12.5%]), with no functional repercussions detected on examination. The macular vascular framework assessed by OCT-angiography remained unchanged postoperatively. We observed immediate postoperative foveal thinning and temporal papillary optic fiber thickening which was not clinically significant. After 6 months, all clinical events had resolved, and both macular and peripapillary OCT had returned to normal.

Conclusions: This study provides evidence for retinal safety when using flow-diverting stents covering the ophthalmic artery. Fundus changes may occur in the postoperative course, but without impact on visual function.

Background: To report the association of downbeat nystagmus and chin-down head posture with cerebellar dysfunction and the results of treatment with bilateral superior rectus recession and bilateral inferior oblique anteriorization.

Methods: This is a retrospective series of patients with cerebellar ataxia treated for downbeat nystagmus, oscillopsia, and abnormal head posture with bilateral superior rectus recession and bilateral inferior oblique anteriorization between 2000 and 2022.

Results: Four patients underwent the procedure. All 4 patients had systemic signs and symptoms of cerebellar ataxia, confirmed by a neurologist as well as MRI findings involving the cerebellum. All patients had oscillopsia, downbeat nystagmus with damping in up gaze, and chin-down head posture. All patients underwent bilateral superior rectus recession and bilateral inferior oblique anteriorization. Median follow-up period was 3 years. Oscillopsia in primary position and abnormal head posture resolved in all patients.

Conclusions: Downbeat nystagmus with oscillopsia associated with cerebellar disorders respond well to surgical treatment with bilateral superior rectus recession and bilateral inferior oblique anteriorization.

Background: Retrograde trans-synaptic retinal degeneration (RTSD) occurs after injury to the postgeniculate visual pathways, and the distribution of retinal thinning mirrors the pattern of visual field defects (VFDs), which reflects the topographical organization of the visual pathway. We aimed to quantitatively assess how RTSD evolves over time in a topographically specific manner based on lesion location and to identify factors associated with its progression.

Methods: This longitudinal cohort study included patients with RTSD caused by structural lesions in the visual pathway, including 29 patients who have had a stroke and 22 with tumors. Optical coherence tomography was used to measure the thickness of the peripapillary retinal nerve fiber layer (pRNFL) and the macular ganglion cell-inner plexiform layer (mGCIPL) in RTSD and non-RTSD areas, defined by the side and VFD patterns. A mixed-effects model was applied to evaluate the longitudinal changes in pRNFL and mGCIPL thickness over the follow-up period and to identify associated factors.

Results: In the RTSD area, the estimated rate of pRNFL thinning was 6.44 µm/log year (95% confidence interval [CI], 4.85-8.02 µm/log year), whereas the estimated rate of mGCIPL thinning was 5.44 µm/log year (95% CI, 4.66-6.21 µm/log year). Thinning was most pronounced during the first 4 years, after which the rate of thinning slowed and stabilized at 0.33 µm/year (95% CI, -0.30 to 0.97 µm/year) for pRNFL and 0.31 µm/year (95% CI, 0.06-0.56 µm/year) for mGCIPL. The thinning rates in the RTSD area were significantly faster than those in the non-RTSD area (pRNFL: 3.50 µm/log year [95% CI, 2.30-4.70 µm/log year], P = 0.005; mGCIPL: 0.29 µm/log year [95% CI, -0.14 to 0.72 µm/log year], P < 0.001). Older age, male sex, and more severe VFD were associated with faster RTSD progression. Regarding the causes, RTSD progression did not differ significantly between stroke and tumor, but hemorrhagic stroke and malignant tumors (glioblastoma, metastatic) showed faster thinning than ischemic stroke and meningioma, respectively.

Conclusions: RTSD progression was pronounced in both the pRNFL and mGCIPL during the first 4 years, with greater severity observed in areas topographically linked to the brain lesion. Although RTSD developed regardless of lesion etiology, older age, male gender, severe VFD, intracerebral hemorrhage, and malignant tumors were associated with significantly faster progression.

Background: C12orf65 (chromosome 12 open reading frame 65) gene encodes a mitochondrial matrix protein essential for the release of newly synthesized proteins from mitochondrial ribosomes. Biallelic pathogenic variants result in loss of function in the protein complex necessary for oxidative phosphorylation. Pathogenic C12orf65 variants have been associated with various inherited neurological diseases, including Behr syndrome, Leigh syndrome, combined oxidative phosphorylation deficiency 7, and hereditary spastic paraplegia.

Methods: This was a retrospective case series of 4 children with C12orf65 mutation from 3 unrelated pedigrees of Chinese descent. Clinical and diagnostic data were collected via retrospective medical record review. The phenotypic manifestations were systematically documented, and the genotypic data were analyzed in conjunction with previous reports.

Results: Four subjects exhibited optic nerve atrophy, strabismus, progressive lower limb dystonia, and abnormal gait. Whole exome sequencing revealed the c.394C>T variant in C12orf65 in all 4 patients. Three of the patients had coexisting novel MT-ND4 (m.11696 G>A) and OPA1 (c.1817G>A) variants.

Conclusions: We analyzed the gene-phenotypic associations of 4 patients in conjunction with previous reports which added to the current understanding of C12orf65-related neurodegenerative disorders. The superimposed mutations in 2 of these patients suggest that the heterogeneity of optic neuropathy and the systemic features associated with C12orf65 pathogenic variants may be altered by the genetic background of mitochondrial or nuclear genes that influence mitochondrial function. We recommend genetic evaluation of C12ORF65-related diseases, including other genes responsible for optic neuropathy, and not just limited to Sanger sequencing.

In this issue of JNO , Drs. Deborah I. Friedman and Mark L. Moster discuss the following 4 articles: Shir D, Lee N, McCarter SJ, Ramanan VK, Botha H, Knopman DS, Petersen RC, Boeve BF, Day GS, Graff-Radford NR, Jones DT, Murray ME, Nguyen AT, Reichard RR, Dickson DW, Tajfirouz D, Machulda MM, Whitwell JL, Josephs KA, Graff-Radford J. Longitudinal evolution of posterior cortical atrophy: diagnostic delays, overlapping phenotypes, and clinical outcomes. Neurology . 2025;104:e213559. Fariselli L, Marzoli BS, Morlino S, Pinzi V, Pedone C, De Martin E, Romeo A, Tramacere I, Marchetti M. Hypofractionated radiosurgery (25 Gy/5 fractions) for optic nerve sheath meningiomas: results from an exploratory phase 2 prospective trial. Int J Radiat Oncol Biol Phys . 2025:S0360-3016(25)00432-8 (epub ahead of print). Dinoto A, Cacciaguerra L, Vorasoot N, Redenbaugh V, Lopez-Chiriboga SA, Valencia-Sanchez C, Guo K, Thakolwiboon S, Horsman SE, Syc-Mazurek SB, Tisavipat N, Mandrekar J, Tajfirouz D, Eggenberger ER, Pless ML, Chodnicki K, Tillema JM, Pittock SJ, Chen JJ, Flanagan EP. Clinical features and factors associated with outcome in late adult-onset myelin oligodendrocyte glycoprotein antibody-associated disease. Neurology . 27;104:e213557. Park HE, Shin HJ, Lee AG. Neuro-ophthalmic findings of visual snow syndrome in Korea. Jpn J Ophthalmol . 2025. doi: 10.1007/s10384-025-01196-1 (epub ahead of print).

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.