Purpose: To investigate the prevalence of retinal vein occlusions (RVOs) and associated factors in a Chinese population.
Patients and methods: The cross-sectional community-based Kailuan Eye Study included individuals who participated in the Kailuan Study. RVOs were diagnosed on the fundus photographs. Estimated cerebrospinal fluid pressure (eCSFP) was calculated as "eCSFP=0.44*Body Mass Index+0.16*Diastolic Blood Pressure-0.18*Age".
Results: The study included 12,499 participants with a mean age of 52.9±13.1 years. The overall prevalence of RVO was 120/12,499 or 0.96%, with branch RVOs observed in 116/12,499 individuals and central RVOs in 4/12,499 individuals. RVOs started at the optic disc in 19 participants (15.8% of all RVOs), and in 101 (84.2%) individuals arterio-venous crossings outside the optic disc. In multivariable analysis, a higher RVO prevalence was associated with older age (P<0.001), higher eCSFP (P<0.001), and higher fasting serum glucose concentration (P<0.001). Differentiating between RVOs at arterio-venous crossings and RVOs at the optic disc revealed that the prevalence of both RVO types was associated with higher eCSFP (P<0.001 and P=0.004, respectively) after adjusting for age and fasting serum glucose concentration.
Conclusion: In this adult Chinese population recruited on a community basis, the prevalence of any RVO (mean: 0.96) was associated with older age, higher eCSFP and higher fasting serum glucose concentration. Higher eCSFP may play an etiologic role in RVOs.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease resulting in a gradual loss of motor neuron function. Although ophthalmic complaints are not presently considered a classic symptom of ALS, retinal changes such as thinning, axonal degeneration and inclusion bodies have been found in many patients. Retinal abnormalities observed in postmortem human tissues and animal models are similar to spinal cord changes in ALS. These findings are not dramatically unexpected because retina shares an ontogenetic relationship with the brain, and many genes are associated both with neurodegeneration and retinal diseases. Experimental studies have demonstrated that ALS affects many "vulnerable points" of the retina. Aggregate deposition, impaired nuclear protein import, endoplasmic reticulum stress, glutamate excitotoxicity, vascular regression, and mitochondrial dysfunction are factors suspected as being the main cause of motor neuron damage in ALS. Herein, we show that all of these pathways can affect retinal cells in the same way as motor neurons. Furthermore, we suppose that understanding the patterns of neuro-ophthalmic interaction in ALS can help in the diagnosis and treatment of this disease.
Background: Delayed Dark-Adapted vision Recovery (DAR) is a biomarker for Age-related Macular Degeneration (AMD), however its measurement is burdensome for patients and examiners.
Methods: In this study, we developed a portable, wireless and user-friendly system that employs a headset with a smartphone to deliver controlled photo-bleach and monocular pattern reversal stimuli, while using custom electroencephalography (EEG) electrodes and electronics in order to measure Dark-Adapted Visual Evoked Potentials (DAVEP) objectively and separately at the peripheral and central visual field. This is achieved in one comfortable 20-minute session, without requiring subject reporting. DAVEP responses post photo-bleach for up to 15 minutes were measured concurrently from both eyes in 12 AMD-patients, 1 degenerative myopia patient, and 8 controls who had no diagnosed macular vision loss.
Results: Robust positive polarity DAVEP responses were observed at 200-500 ms from stimulus onset to scotopic stimuli that have been seldom reported and analyzed previously. The amplitude recovery of the DAVEP response was significantly delayed in AMD patients as compared to controls. We developed DAVEP1 scores, a simple metric for DAR, which classified 90% of subject eyes correctly, indicating the presence of AMD in at least one eye of all pre-confirmed subjects with this diagnosis.
Conclusion: We developed a user-friendly, portable VEP system and DAVEP1 metric, which show a high potential to identify DAR-deficits in AMD-patients. This novel technology could aid in early diagnosis of AMD.
Purpose: The aim of the study is to examine the association between amblyopia type and the presence of nystagmus on binocular and monocular functions of the fellow (FE) and amblyopic eye (AE).
Methods: We recruited 19 controls and 44 amblyopes (anisometropes=13, strabismic=10, mixed=21). We measured visual, grating, and vernier acuities and high/low spatial frequency (SF) contrast sensitivities in each eye using a staircase method. Stereoacuity was measured with the Titmus fly test. We recorded fixation eye movements (FEM) using high-resolution video-oculography. Subjects were classified as having either no nystagmus (n=18), fusion maldevelopment nystagmus syndrome (FMNS) (n=12), or nystagmus without any structural anomalies that does not meet the criteria for FMNS or infantile nystagmus (n=14).
Results: Analysis of visual function by clinical amblyopia type showed that patients with strabismus/mixed amblyopia (F (2,54)=9.5, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit. The FE of patients with anisometropia had greater contrast sensitivity deficits at low (F (2,43)=4.4, p=0.018) and high SF (F (2,42)=10.1, p<0.001). Analysis of visual function by FEM characteristics (low SF: (F (3,43)=4.3, p=0.010) and high SF: (F (3,42)=7.1, p=0.001) showed that the FE of patients with FMNS had worse low and high SF contrast sensitivities, whereas those without FMNS had greater contrast sensitivity deficits only at high SF compared to controls. Patients with FMNS (F (3,54) = 12.9, p<0.001) were more likely to have poor stereopsis while controlling for AE grating acuity deficit compared to patients without FMNS. All amblyopic patients had worse high SF contrast sensitivity of the AE irrespective of type or FEM characteristics (Type = F (2,43)=8.8, p=0.001; FEM characteristics= F (3,43)=5.1, p=0.004).
Conclusion: The presence of FMNS in patients with strabismic/mixed amblyopia is associated with poor/absent stereopsis. FE deficits vary across amblyopia type. Like FEM abnormalities, visual function deficits are seen in the FE of patients with and without nystagmus.
Purpose: To assess the reliability of automated visual field studies with neurological abnormalities and normal reliability indices that were inconsistent with the remainder of the neuro-ophthalmic assessment.
Methods: Retrospective observational study from the clinical practice of a neuro-ophthalmologist at a tertiary referral center.
Results: From 2230 patient charts, ten cases were identified that met the inclusion criteria. In eight of the cases repeat visual field testing had no reproducible abnormality. Four of these cases were concerning for a bitemporal or homonymous hemianopia. None of the patients, including the two cases with a reproducible defect, developed any convincing manifestations of an organic disease related to the visual field defect.
Conclusion: Our findings suggest that even marked neurological abnormalities on reliable automated visual field tests can be false. When the remainder of the neuro-ophthalmic evaluation is inconsistent with the test result, we recommend that clinicians attempt to immediately repeat the visual field study.
Objective: To report on the lipocalin-type prostaglandin D synthase (L-PGDS) concentrations in the cerebrospinal fluid (CSF) of the perioptic and lumbar subarachnoid space (SAS) in patients with radiologically proven optic nerve (ON) sheath compartmentation presenting as normal-tension glaucoma (NTG).
Methods: Retrospective biochemical analysis of CSF in thirteen patients with ON sheath compartmentation presenting as NTG (four females, mean age 70±8 years). CSF was sampled from the SAS of the ON during ON sheath fenestration for ON sheath compartmentation and from the lumbar SAS at the time of lumbar puncture. Nephelometry was used for the quantification of L-PGDS and albumin concentration. Albumin was measured in order to assess the amount of contamination with serum in the CSF samples taken from the ON SAS. Main outcome measures were L-PGDS concentrations in the CSF of the perioptic and lumbar SAS.
Results: Mean L-PGDS concentration was 24±8 mg/L in the lumbar SAS compared to 33±27 mg/L without correction of serum contamination and 45±39 mg/L after correction of serum contamination in the perioptic SAS. The difference between the lumbar and the perioptic SAS was statistically significant (P=0.0047 without correction of serum contamination, P=0.0002 with correction of serum contamination; Mann-Witney U-test).
Conclusion: This study demonstrates a concentration gradient of L-PGDS levels within the CSF with a statistically significant higher concentration in the compartmentalized perioptic SAS compared to that in the lumbar SAS. Biochemical changes in the perioptic SAS might be involved in the pathophysiology in NTG patients with ON sheath compartmentation.
Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.
Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.
Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.
Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.
Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.
Purpose: Retinal layer thickness parameters measured by optical coherence tomography (OCT) are emerging biomarkers of neuroaxonal degeneration and inflammation in multiple sclerosis (MS). We aimed to evaluate the value of retinal layer thickness for prediction of disability worsening and relapse in a real-world MS cohort.
Patients and methods: For this longitudinal observational study, we included MS patients with spectral-domain OCT scans available and ≥1 year of clinical follow-up. The value of peripapillary retinal nerve fiber layer (pRNFL), macular ganglion-cell-and-inner-plexiform-layer (GCIPL) and inner nuclear layer (INL) thickness for prediction of disability worsening and relapse during the observation period was tested by multivariate models.
Results: We analyzed 60 MS patients during a mean observation period of 2.9 years (SD 1.8). Lower baseline thickness of GCIPL (cut-off <77µm; HR 4.1, p=0.001) and pRNFL (cut-off ≤88µm; HR 3.1, p=0.019) were associated with an increased risk of disability worsening. Longitudinally, mean thinning rates were -0.8µm/year (SD 1.6) for GCIPL, -0.6µm/year (SD 3.5) for pRNFL. GCIPL thinning ≥1.0µm/year and pRNFL >1.5µm/year is associated with higher likelihood of disability worsening (HR 5.7, p=0.009 and HR 6.8, p=0.003, respectively). INL thickened in patients with relapse by a mean 0.9µm while thinning by 0.3µm in patients without relapse (p=0.04). In multivariate analyses, INL thickening was associated with an increased probability of relapse (OR 17.8, p=0.023).
Conclusion: Cross-sectional and longitudinal measurement of GCIPL and pRNFL thinning is reliable as a biomarker of disability worsening in a real-world setting. Change of INL thickness is a promising marker of relapse, i.e. inflammatory activity.

