OBJECTIVES: To investigate the characteristics and objective assessment method of visual field defects caused by optic chiasm and its posterior visual pathway injury. METHODS: Typical cases of visual field defects caused by injuries to the optic chiasm, optic tracts, optic radiations, and visual cortex were selected. Visual field examinations, visual evoked potential (VEP) and multifocal visual evolved potential (mfVEP) measurements, craniocerebral CT/MRI, and retinal optical coherence tomography (OCT) were performed, respectively, and the aforementioned visual electrophysiological and neuroimaging indicators were analyzed comprehensively. RESULTS: The electrophysiological manifestations of visual field defects caused by optic chiasm injuries were bitemporal hemianopsia mfVEP abnormalities. The visual field defects caused by optic tract, optic radiation, and visual cortex injuries were all manifested homonymous hemianopsia mfVEP abnormalities contralateral to the lesion. Mild relative afferent pupil disorder (RAPD) and characteristic optic nerve atrophy were observed in hemianopsia patients with optic tract injuries, but not in patients with optic radiation or visual cortex injuries. Neuroimaging could provide morphological evidence of damages to the optic chiasm and its posterior visual pathway. CONCLUSIONS Visual field defects caused by optic chiasm, optic tract, optic radiation, and visual cortex injuries have their respective characteristics. The combined application of mfVEP and static visual field measurements, in combination with neuroimaging, can maximize the assessment of the location and degree of visual pathway damage, providing an effective scheme for the identification of such injuries.
Humans ; Optic Chiasm/pathology* ; Visual Pathways/pathology* ; Visual Fields ; Evoked Potentials, Visual ; Random Amplified Polymorphic DNA Technique ; Hemianopsia/complications* ; Vision Disorders/pathology* ; Optic Nerve Injuries/diagnostic imaging* ; Brain Injuries, Traumatic/diagnostic imaging*

The visual system plays an important role in our daily life. In this study, we found that loss of dendritic cell factor 1 (DCF1) in the primary visual cortex (V1) caused a sight deficit in mice and induced an abnormal increase in glutamic acid decarboxylase 67, an enzyme that catalyzes the decarboxylation of glutamate to gamma aminobutyric acid and CO, particularly in layer 5. In vivo electrophysiological recordings confirmed a decrease in delta, theta, and beta oscillation power in DCF1-knockout mice. This study presents a previously unknown function of DCF1 in V1, suggests an unknown contact between DCF1 and GABA systems, and provides insight into the mechanism and treatment of visual deficits.
Animals ; Brain Waves ; genetics ; Disease Models, Animal ; Electroencephalography ; Gene Expression Regulation ; drug effects ; genetics ; Geniculate Bodies ; drug effects ; metabolism ; Ginkgolides ; therapeutic use ; Glutamate Decarboxylase ; metabolism ; Lactones ; therapeutic use ; Membrane Proteins ; deficiency ; genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Nerve Tissue Proteins ; deficiency ; genetics ; Photic Stimulation ; Proto-Oncogene Proteins c-fos ; metabolism ; Vision Disorders ; drug therapy ; genetics ; pathology ; physiopathology ; Visual Cortex ; metabolism ; pathology ; gamma-Aminobutyric Acid ; metabolism

This study was done to report the epidemiologic characteristics of medical retirement from the Republic of Korea (ROK) Army due to visual impairment and to suggest a practical screening system for the draft. The medical records of 423 eyes of 301 patients who retired from the ROK Army due to visual impairment were reviewed retrospectively between January 2010 and December 2014. The patients were grouped by the presence of trauma, and each group was subdivided by military rank. We analyzed demographic and ophthalmic data, including the etiology of ophthalmologic disease. The etiology was classified into 5 anatomical categories (ocular surface, lens, retina, optic nerve and extraocular visual pathway, and extraocular muscle and orbit), which were then subdivided into the type of disease. The mean age was 24.5 years, and non-traumatic mechanisms accounted for 81.1% (343/423 eyes) of medical retirements. Visual acuity was better in patients without trauma. In enlisted soldiers, disease in the optic nerve and extraocular visual pathway was the most common anatomical category (40.5%), and primary open angle glaucoma (30.8%), retinal dystrophy (18.3%), congenital cataract (14.5%), and retinal detachment (9.7%) were the four most common diseases. Most medical retirements due to visual impairment resulted from non-traumatic mechanisms, even though patients were young. The fundus examination and visual field test would be more useful tools than a conventional vision test for large-scale draft screening for the most common two disease types: primary open angle glaucoma and retinal dystrophy.
Adult ; Cataract/epidemiology ; Cohort Studies ; Glaucoma, Open-Angle/epidemiology ; Humans ; Male ; Middle Aged ; Military Personnel ; Republic of Korea/epidemiology ; Retinal Dystrophies/epidemiology ; *Retirement ; Retrospective Studies ; Vision Disorders/epidemiology/*pathology ; Visual Acuity ; Young Adult

BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult

PURPOSE: To investigate and compare the progression of medically treated primary open angle glaucoma according to the baseline intraocular pressure (IOP). METHODS: This study included a total of 345 eyes from 345 patients (mean follow-up period, 4.5 years). Eyes were classified into either conventional normal tension glaucoma (cNTG, < or =21 mmHg) or conventional high-tension glaucoma (cHTG, >21 mmHg) groups according to the conventional cut-off value of the IOP. Additionally, the median IOP (15 mmHg) was used to create two other groups (median NTG [mNTG] < or =15 mmHg and median HTG [mHTG] >15 mmHg). Using these values, 306, 39, 153, and 192 eyes were assigned to the cNTG, cHTG, mNTG, and mHTG groups, respectively. Glaucoma progression was determined either by optic disc/retinal nerve fiber layer photographs or serial visual field data. RESULTS: Mean reduction of IOP after medical treatment and of central corneal thickness was lower in the cNTG group, while the prevalence of disc hemorrhage and baseline visual field mean deviation did not differ between the cNTG and cHTG groups. A mean reduction in the IOP was observed after medical treatment, and central corneal thickness was lower in the mNTG group; disc hemorrhage was more frequent in the mNTG than in the mHTG group. Among the 345 analyzed eyes, 100 (29%) showed progression during the follow-up period. In the cHTG group, a higher baseline IOP (hazard ratio, 1.147; p = 0.024) was associated with glaucoma progression. Disc hemorrhage (hazard ratio, 15.533; p < 0.001) was also strongly associated with progression in the mNTG group. CONCLUSIONS: Baseline IOP was a significant risk factor for glaucoma progression in cHTG patients (10% of our total participants), while disc hemorrhage showed the strongest association with progression in the mNTG group, indicating that a cut-off value other than the conventional 21 mmHg is required to define true low-tension glaucoma in populations where NTG predominates among all glaucoma patients.
Aged ; Disease Progression ; Female ; Glaucoma, Open-Angle/*diagnosis ; Gonioscopy ; Humans ; Intraocular Pressure ; Low Tension Glaucoma/*diagnosis ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/pathology ; Optic Nerve Diseases/*diagnosis ; Photography/standards ; Retinal Ganglion Cells/pathology ; Retrospective Studies ; Tomography, Optical Coherence ; Tonometry, Ocular ; Vision Disorders/diagnosis ; Visual Field Tests/standards ; Visual Fields

OBJECTIVETo understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing.

METHODSFrom a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery.

RESULTSAt the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery.

CONCLUSIONSThe data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.

Aged ; Aging ; pathology ; Animals ; Cataract ; complications ; physiopathology ; Cataract Extraction ; utilization ; China ; Female ; Follow-Up Studies ; Humans ; Male ; Urban Population ; Vision Disorders ; etiology ; physiopathology

PURPOSE: To investigate the differences in retinal nerve fiber layer (RNFL) change and optic nerve head parameters between non-arteritic anterior ischemic optic neuropathy (NAION) and open angle glaucoma (OAG) with altitudinal visual field defect. METHODS: Seventeen NAION patients and 26 OAG patients were enrolled prospectively. The standard visual field indices (mean deviation, pattern standard deviation) were obtained from the Humphrey visual field test and differences between the two groups were analyzed. Cirrus HD-OCT parameters were used, including optic disc head analysis, average RNFL thickness, and RNFL thickness of each quadrant. RESULTS: The mean deviation and pattern standard deviation were not significantly different between the groups. In the affected eye, although the disc area was similar between the two groups (2.00 +/- 0.32 and 1.99 +/- 0.33 mm2, p = 0.586), the rim area of the OAG group was smaller than that of the NAION group (1.26 +/- 0.56 and 0.61 +/- 0.15 mm2, respectively, p < 0.001). RNFL asymmetry was not different between the two groups (p = 0.265), but the inferior RNFL thickness of both the affected and unaffected eyes were less in the OAG group than in the NAION group. In the analysis of optic disc morphology, both affected and unaffected eyes showed significant differences between two groups. CONCLUSIONS: To differentiate NAION from OAG in eyes with altitudinal visual field defects, optic disc head analysis of not only the affected eye, but also the unaffected eye, by using spectral domain optical coherence tomography may be helpful.
Aged ; Arteritis/diagnosis ; Diagnosis, Differential ; Female ; Glaucoma, Open-Angle/*diagnosis ; Humans ; Male ; Middle Aged ; Nerve Fibers/*pathology ; Optic Disk/*pathology ; Optic Neuropathy, Ischemic/*diagnosis ; Prospective Studies ; Retinal Ganglion Cells/*pathology ; Tomography, Optical Coherence ; Vision Disorders/*diagnosis ; Visual Field Tests ; *Visual Fields

PURPOSE: To investigate patterns of functional magnetic resonance imaging (fMRI) activation during sentence reading before and after wearing color-tinted lenses. METHODS: A total of 15 Meares-Irlen syndrome patients with a mean age of 23.4 years (range, 13 to 42 years) with no history of neurological or psychiatric disorders were scanned using a 3T MR scanner (Siemens, Tim-Trio, Germany). Each patient underwent two sessions of fMRI imaging (before and after MISViS color-tinted lens application). The fMRI paradigm included a block design of 20 seconds of rest (cross), 20 seconds of activation (sentence reading), and ten blocks (a total of 200 echo-planar image volumes) repeated for each session. Data preprocessing and analyses were performed using the SPM8 software package. RESULTS: The reading speed of patients improved more than 20% while wearing the selected lenses. When compared to the before-lens session, the after-lens session identified significant regions of activation in the left middle and superior temporal gyri (paired t-test; maximal z score, 5.38; Montreal Neurological Institute coordinate, -60 / -39 / 0; threshold at p < 0.05; corrected for multiple comparisons using family-wise error). No region of activation at the same threshold was found in the before-lens session as compared to the after-lens session. CONCLUSIONS: In the current study, we confirmed activation in the left middle and superior temporal gyri during sentence reading after wearing color-tinted lenses. These results could explain the effectiveness of color-tinted lenses in patients with Meares-Irlen syndrome.
Adolescent ; Adult ; Brain/*pathology/physiopathology ; Color Perception/*physiology ; Dyslexia/*diagnosis/physiopathology ; *Eyeglasses ; Female ; Humans ; Magnetic Resonance Imaging/*methods ; Male ; Perceptual Disorders/*diagnosis/physiopathology ; Pilot Projects ; Reading ; Syndrome ; Vision Disorders/*diagnosis/physiopathology ; Young Adult

OBJECTIVE: Aimed to analyse the clinical features of the patients with sphenoid sinus mucocele, achieve earlier diagnosis and more timely intervention and decrease the occurrence of misdiagnoses. METHOD: A retrospective study was first conducted in patients with sphenoid sinus mucoele treated in Xiangya hospital from Jan 2000 to Jan 2015. Then literature reports on this disease were collected and analyzed from China National Knowledge Infrastructure (CNKI) and Wan Fang database. RESULT: We collected 82 patients with sphenoid sinus mucocele treated in Xiangya hospital. There were 52 patients presented with headache, 31 patients presented with visual impairment, 10 patients presented with cranial nerve palsy, 2 patients presented with exophthalmos, 15 patients presented with nasal symptoms, and 5 patients with no obvious symptoms. There was no significant difference for symptoms distribution between male and female patients (P > 0.05). Among 45 patients with headache as first symptom and 10 patients with ethmoid sinus mucocele, there were 18 patients and 8 patients subsequently suffering from visual impairment, respectively. We also collected 161 patients in literature except for enrolling, the 82 patients treated in Xiangya hospital, and found that headache was the most common symptom, followed by visual impairment, in the two independent cohorts. CONCLUSION To the best of our knowledge, this is the study of maximum sample for sphenoid sinus mucocele in China. Headache and visual impairment are the most common symptoms for sphenoid sinus mucocele. Surgical treatment should be early performed when the desease accompanied with headache or ethmoid sinus mucocele, to avoid other complications such as visual impairment and even blindness.
China ; Cranial Nerve Diseases ; etiology ; Databases, Factual ; Diagnostic Errors ; Ethmoid Sinus ; Exophthalmos ; etiology ; Female ; Headache ; etiology ; Humans ; Male ; Mucocele ; complications ; diagnosis ; pathology ; Paranasal Sinus Diseases ; Retrospective Studies ; Sphenoid Sinus ; pathology ; Vision Disorders ; etiology

PURPOSE: To compare the thickness of the lamina cribrosa (LC) and vascular factors of early normal-tension glaucoma (NTG) patients with high and low intraocular pressure (IOP) that are expected to be associated with the development of glaucoma. METHODS: Seventy-one Korean NTG patients with low IOP (the highest IOP <15 mmHg, 40 patients) and high IOP (the lowest IOP >15 mmHg, 31 patients) were included in this study. The thickness of LC and vascular factors were compared. The thickness of the LC was measured using the enhanced depth imaging method with spectral domain optical coherence tomography (Heidelberg Spectralis). RESULTS: The mean thickness of the central LC was 190.0 +/- 19.2 microm in the low IOP group and 197.8 +/- 23.6 microm in the high IOP group, but there was no statistical significant difference between the two groups (p > 0.05). The prevalence of self-reported Raynaud phenomenon was significantly higher in the low IOP group (33.0%) than the high IOP group (10.3%, p = 0.04). CONCLUSIONS: The laminar thickness did not significantly differ between the high and low IOP groups. However, the prevalence of Raynaud phenomenon was higher in the low IOP groups. These results suggest that the development of glaucoma with low IOP patients may be more influenced by peripheral vasospasm, such as Raynaud phenomenon, rather than laminar thickness in NTG.
Aged ; Cross-Sectional Studies ; Female ; Humans ; *Intraocular Pressure ; Low Tension Glaucoma/*diagnosis ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/*pathology ; Optic Nerve Diseases/*diagnosis ; Raynaud Disease/*diagnosis ; Retinal Ganglion Cells/pathology ; Tomography, Optical Coherence ; Tonometry, Ocular ; Vision Disorders/diagnosis ; Visual Fields