Eye and Brain最新文献

Purpose: To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression.

Patients and methods: Forty eyes of 20 patients with genetically and enzymatically confirmed diagnosis of late-infantile CLN2 disease were included in this retrospective cohort study. All patients received 300 mg of intracerebroventricular enzyme replacement treatment (cerliponase alfa) once every two weeks. OCT imaging was performed under general anesthesia using spectral domain OCT (Heidelberg Engineering, Heidelberg, Germany). PRNFL thickness and central retinal thickness (CRT) values were manually confirmed with the Heidelberg Eye Explorer software. Corresponding pediatric data were extracted from the DEM-CHILD database. Spearman correlation coefficient values (rs) were calculated between pRNFL and CRT values, age at examination, the Weill Cornell Late Infantile Neuronal Ceroid Lipofuscinosis (Weill Cornell LINCL) Scale and the Hamburg Motor and Language (HML) Scale.

Results: Fourteen of 20 patients underwent serial examinations resulting in a total of 84 OCT Scans and 42 Weill Cornell LINCL and HML Scale scores. Mean age was 6.90 years and mean follow-up time was 1.38 years. Mean global pRNFL (G-pRNFL) thickness was 77.02 μm presenting a significant decrease compared to normative values from healthy children (106.45 μm; p < 0.0001). G-pRNFL displayed significant correlations towards age at examination (r_s = - 0.557, p < 0.01), the Weill Cornell LINCL Scale (r_s = 0.849, p < 0.01), and the HML Scale (r_s = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients.

Conclusion: Patients with late-infantile CLN2 disease exhibit early onset progressive pRNFL loss regardless of outer retinal degeneration, highlighting the potential of pRNFL as an independent ocular biomarker for retinal pathology in late-infantile CLN2 disease.

Purpose: To characterize ocular motility disturbances through Microperimetry (MP) in patients with Multiple Sclerosis (MS) trying to detect those capable of influencing the disability to improve the accuracy of assessing visual impact in EDSS scale. MP results were compare with some structural parameters obtained by OCT.

Patients and methods: Cross-sectional analytical and correlational case-control study approved by Ethical Committee. A total of 82 eyes (41 patients) and 30 healthy eyes (15 subjects) were enrolled after informed consent. All participants underwent ophthalmological evaluation with MP and OCT. Variables included MS disease duration, Expanded Disability Status Scale (EDSS) score; in OCT: central macular thickness (CMT), ganglion cell-inner plexiform layer thickness (GCIPL), and peripapillary retinal nerve fiber layer thickness (pRNFL); and in MP: test duration, reaction time, average macular threshold (AT), and 4 fixation stability indexes (P1, P2, BCEA63, BCEA95).

Results: MS group showed a significant decrease in GCIPL (p < 0.001) and pRNFL thickness (p < 0.001) compared to the control group. Furthermore, patients demonstrated a longer examination (p < 0.001) and reaction (p < 0.001) times, reduced AT (p < 0.001), more unstable fixation indexes (P1 p <0.004, P2 p = 0.018, BCEA63 p = 0.005 and BCEA95 p = 0.007), measured by MP. In addition, patients with a history of ON (n=16) demonstrated longer examination times in MP (p = 0.049) compared to MS patients without ON, but they were not correlations with OCT measurements, EDSS score correlated with the CMT (p = 0.023, r = -0.25), MP duration (p = 0.043, r = 0.22), and fixation indexes (P1 p = 0.049, r = -0.22, BCEA63 p = 0.041, r = 0.23, BCEA95 p = 0.049, r = 0.22).

Conclusion: Our study emphasizes the complementary utility of MP and OCT in assessing MS patients. Additionally, it highlights that using MP for objective measurements of oculomotor dysfunction could improves accuracy in disability assessment on the EDSS scale.

Purpose: The impact of visual deprivation on retinal structure is widely debated. Experimental models, like monocular deprivation through lid suture, provide insights into the consequences of lacking visual experience during development. This deprivation delays primary visual cortex (CV1) maturation due to improper neural connection consolidation, which remains plastic beyond the critical period. However, few studies have used Optical Coherence Tomography (OCT) to investigate structural alterations in the retina of animal models following monocular deprivation. Instead, some studies have focused on the ganglion cell layer using post-mortem histological techniques in amblyopia models induced by monocular deprivation.

Methods: In this study, we used Cliff test to assess stereoscopic vision and spectral domain optical coherence tomography (SD-OCT) to evaluate retinal changes in an in vivo model of visual deprivation treated with Transcranial Direct Current Stimulation (tDCS).

Results: The depth perception test initially revealed differences between individuals with amblyopia and the control group. However, after 8 tDCS sessions, amblyopic subjects matched the control group's performance, which remained stable Additionally, significant changes were observed in retinal structures post-tDCS treatment. Specifically, the thickness of the Nerve Fiber Layer + Ganglion Cell Layer + Inner Plexiform Layer (NFL+GCL+IPL) increased significantly in amblyopic eyes (p<0.001). Moreover, significant retinal thickening, including the Nerve Fiber Layer + Ganglion Cell Layer + Inner Plexiform Layer (NFL+GCL+IPL) and the entire retina, was observed post-tDCS treatment (p<0.05), highlighting the critical role of tDCS in ameliorating amblyopia. Additionally, treated animals exhibited reduced thickness in the Inner Nuclear Layer (INL) and Outer Nuclear Layer (ONL).

Conclusion: tDCS treatment effectively restores amblyopic individuals' stereoscopic vision, aligning their performance with controls, while impacting retinal structure, highlighting its potential in ameliorating amblyopia's visual deficits.

Purpose: To evaluate the use of delay alternating with nutation for tailored excitation-prepared T1-weighted turbo spin echo (DANTE T1-SPACE) imaging for diagnosing optic neuritis and to analyze its correlation with clinical findings before and after treatment.

Patients and methods: Patients diagnosed with optic neuritis or non-arteritic anterior ischemic optic neuropathy (NA-AION) were evaluated at the Ophthalmology Department of Kyoto University Hospital. All patients underwent magnetic resonance (MR) studies before treatment initiation and ophthalmic examinations before and after treatment. Three ophthalmologists independently reviewed the MR scans for abnormalities. The magnetic resonance imaging (MRI) assessments included post-contrast DANTE T1-SPACE, post-contrast volumetric interpolated breath-hold examination (VIBE), and short T1 inversion recovery (STIR) scans. The presence of abnormalities in each sequence was determined.

Results: Of 36 eyes from 30 patients, 21 eyes from 17 patients were diagnosed with optic neuritis, and 15 eyes from 13 patients were diagnosed with NA-AION. DANTE T1-SPACE sequences showed better sensitivity for detecting optic neuritis than STIR sequences (100% vs 67%, p = 0.009). VIBE images did not confirm enhancement of lesions in some cases with optic neuritis. No differences were observed among the sequences for NA-AION. Lesion length evaluated by DANTE T1-SPACE sequences was associated with circumpapillary retinal nerve fiber layer thickness at the initial visit, eye pain, and the time interval from symptom onset to MRI scan.

Conclusion: Contrast-enhanced DANTE T1-SPACE was better than other sequences of MRI for diagnosing optic neuritis.

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene with significant intrafamilial variability in clinical presentation and brain imaging phenotypes. The clinical presentation of HDBSCC includes severe recurrent hemorrhages involving the brain parenchyma and the ventricles beginning in utero and continuing in infancy together with dense central cataracts present at birth. This comprehensive review documents reported cases on this unique condition and describes its genetic, neuroradiologic and ophthalmic features. It should be included in the differential diagnosis of children with congenital cataracts and neurodevelopmental abnormalities. Unique clinical, imaging findings and genetic testing can help the diagnosis.

Glaucoma is the leading cause of irreversible blindness worldwide. It is an ocular disease characterized by an increase in intraocular pressure or, in some cases, normal intraocular pressure, which leads to optic nerve damage and progressive constriction of the visual field (VF). Primary Open-Angle Glaucoma (POAG) and Primary Angle-Closure Glaucoma (PACG) represent the predominant forms of glaucoma. Numerous hypotheses have been posited to elucidate the pathogenic mechanisms underlying these conditions. There is an emerging understanding of the distinct pathological processes that differentiate the various types of glaucoma. While some similarities in the mechanisms between PACG and POAG have been suggested, evidence indicates that there are also significant differences between the two. This review synthesizes the similarities and differences in the etiology of optic neuropathy caused by POAG and PACG, considering their respective pathophysiological mechanisms, the morphology of the optic disc and surrounding tissues, genetic characteristics, optical coherence tomography angiography, optical coherence tomography, and structural and functional features from VF examinations. These characteristics may contribute to a deeper comprehension of the underlying pathogenesis of glaucoma and enhance the management of different types of this ocular condition.

The retina's similar structure and function to the brain make it a unique visual "window" for studying cerebral disorders. Ophthalmic artery occlusion (OAO) or retinal artery occlusion (RAO) is a severe ophthalmic emergency that significantly affects visual acuity. Studies have demonstrated that patients with OAO or RAO face a notably higher risk of future acute ischemic stroke (AIS). However, ophthalmologists often overlook multidisciplinary approach involving the neurologist, to evaluate the risk of AIS and devise clinical treatment strategies for patients with OAO or RAO. Unlike the successful use of thrombolysis in AIS, the application of thrombolysis for OAO or RAO remains limited and controversial due to insufficient reliable evidence. In this review, we aim to summarize the anatomical and functional connections between the retina and the brain, and the clinical connection between OAO or RAO and AIS, compare and review recent advances in the effectiveness and safety of intravenous and intra-arterial thrombolysis therapy in patients with OAO or RAO, and discuss future research directions for OAO or RAO. Our goal is to advance the development of multidisciplinary diagnosis and treatment strategies for the disease, as well as to establish expedited pathways or thrombolysis guidelines for vascular intervention.

Leber Hereditary Optic Neuropathy (LHON) stands as a distinctive maternally inherited mitochondrial disorder marked by painless, subacute central vision loss, primarily affecting young males. This review covers the possible relationship between LHON and multiple sclerosis (MS), covering genetic mutations, clinical presentations, imaging findings, and treatment options. LHON is associated with mutations in mitochondrial DNA (mtDNA), notably m.11778G>A, m.3460G>A, and m.14484T>C, affecting complex I subunits. Beyond ocular manifestations, LHON can go beyond the eye into a multi-systemic disorder, showcasing extraocular abnormalities. Clinical presentations, varying in gender prevalence and outcomes, underscore the nature of mitochondrial optic neuropathies. Hypotheses exploring the connection between LHON and MS encompass mitochondrial DNA mutations triggering neurological diseases, immunologically mediated responses inducing demyelination, and the possibility of coincidental diseases. The research on mtDNA mutations among MS patients sheds light on potential associations with specific clinical subgroups, offering a unique perspective into the broader landscape of MS. Imaging findings, ranging from white matter alterations to cerebrospinal fluid biomarkers, further emphasize shared pathological processes between LHON-MS and classical MS. This comprehensive review contributes to the understanding of the complex relationship between LHON and MS.

A putative mechanism of neurodegeneration in multiple sclerosis (MS) is trans-synaptic degeneration (TSD), whereby injury to a neuron leads to degeneration of synaptically connected neurons. The visual system is commonly involved in MS and provides an ideal model to study TSD given its well-defined structure. TSD may occur in an anterograde direction (optic neuropathy causing degeneration in the posterior visual pathway including the optic radiations and occipital gray matter) and/or retrograde direction (posterior visual pathway lesions causing retinal degeneration). In the current review, we discuss evidence supporting the presence of anterograde and retrograde TSD in the visual system in MS.