We reported a rare case of a dialysis patient coincident pituitary prolactinoma with calcification. A 55-year-old woman who had undergone hemodialysis for 8 years was admitted to the nephrology unit because of headache, blurred vision, and hypotension. Physical examination was normal; endocrinological examination demonstrated elevated serum levels of prolactin (> 4240 mIU/L), but other hormonal profiles, such as growth hormon, adrenocorticotropic hormone, thyroid stimulating hormone, free triiodothyronine, free thyroxine, follicle-stimulating hormone and luteinizing hormone, were absolutely or relatively lower. A cranial computed tomography (CT) suggested saddle area a high-density screenage with an anteroposterior diameter of 1.0 cm. A cerebral magnetic resonance scan confirmed the pituitary adenoma accompanied with calcification. Contrast-enhanced T1-weighted images revealed a less enhancing tumor, 14 mm wide round lesion with a high intensity signal. It enlarges the sella turcica, but the optic chiasma is not displaced. We suggest that in the differential diagnosis of any hemodialysis patient with severe headache, hypotension, and visual disturbances, this syndrome should be considered as prompt pituitary adenoma.
Female ; Headache ; parasitology ; Humans ; Middle Aged ; Pituitary Neoplasms ; diagnosis ; physiopathology ; Prolactinoma ; diagnosis ; physiopathology ; Renal Dialysis ; Vision Disorders ; pathology

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

To investigate the correlation between optic nerve head configuration and visual field defects, optie nerve head analysis using confocal scanning laser tomography (Heidelberg Retina Tomograph, HRT) and automated static threshold perimetry using a Humphrey Field Analyzer (program C3O-2) were performed on 81 eyes of 44 primary open-angle glaucoma (POAG) patients. The optic nerve head parameters-rim area, rim volume, mean retinal nerve fiber layer thickness, height variation contour, and third moment in contour were measured by HRT and were analyzed for correlation with visual field indices-mean deviation, and corrected pattern standard deviation. All optic nerve hend parameters except HVC correlated significantly with the visual field indices; the highest correlation was between rim area and mean deviation (r = 0.6172, p < 0.O0001). The rim area of the superior and inferior quadrants correlated significantly with the visual field defects in corresponding sectors. Structural optic disc measurements by HRT correlated significantly with funetional optic nerve head damage in POAG
Female ; Glaucoma, Open-Angle/*pathology/physiopathology ; Humans ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/*pathology/physiopathology ; Retina/pathology ; Tomography/*methods ; Vision Disorders/*pathology/physiopathology ; Visual Field Tests ; *Visual Fields

To know the pattern of visual field (VF) defect of low tension glaucoma (LTG), its diffuse and localized VF defects were compared using the significance values (p-value) of mean deviation (MD) and corrected pattern standard deviation (CPSD), which are calculated with STATPAC in Humphrey Visual Field Analyser. Sixteen eyes of LTG were enrolled and 34 eyes of primary open angle glaucoma (POAG) were used as controls. The degree of VF defects in LTG and POAG was relatively mild with the p-value of MD equal to or greater than 1%. Neither mean MD nor mean CPSD of LTG was significantly different from each of POAG (p > 0.8 and p > 0.2, respectively). Comparing the p-values of MD and CPSD, many patients showed more significant p-value of MD in LTG and POAG (62.5% and 61.8%, respectively). However, relatively more severe defect of CPSD tended to occur more frequently in LTG than in POAG (25% and 5.9%, respectively, chi-square = 4.964, p < 0.09). The relation between p-values of MD and CPSD was not significantly influenced by the intraocular pressure, MD or vertical cup to disc ratio in either LTG or POAG.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Glaucoma, Open-Angle/*pathology/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Middle Aged ; Optic Disk/*pathology ; Probability ; Vision Disorders/*pathology ; *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 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

Visual loss and field defects commonly occur after acute blood loss. We present a case of bilateral permanent visual field defect in a 30-year-old man after a massive hemorrhage caused by large vessel injury during a right nephrectomy. His postoperative visual acuity decreased significantly, and his visual field showed peripheral constriction and inferior altitudinal field defect in both eyes. A year and a half after the operation, visual acuity recovered to the preoperative level, but the field did not show improvement. We advance that this is a possible result of extensive injury to the occipital area, excluding the corresponding area of the macula.
Acute Disease ; Adult ; Blindness/*etiology ; Blood Loss, Surgical/*physiopathology ; Cerebral Infarction/complications/*etiology ; Humans ; Male ; Nephrectomy ; Occipital Lobe/pathology ; Vena Cava, Inferior/injuries ; Vision Disorders/*etiology ; *Visual Fields

The intravenous administration of gadopentetate dimeglumine (GD) is relatively safe and rarely causes systemic toxicity in the course of routine imaging studies. However, the general safety of intrathecal GD has not been established. We report a very rare case of an overdose intrathecal GD injection presenting with neurotoxic manifestations, including a decreased level of consciousness, global aphasia, rigidity, and visual disturbance.
Adult ; Aphasia/etiology/pathology/physiopathology ; Brain/drug effects/pathology ; *Contrast Media/administration & dosage/toxicity ; *Gadolinium DTPA/administration & dosage/toxicity ; Humans ; *Injections, Spinal ; Male ; Muscle Rigidity/etiology/pathology/physiopathology ; *Neurotoxicity Syndromes/etiology/pathology/physiopathology ; Tomography, X-Ray Computed ; Vision Disorders/etiology/pathology

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