Intracranial germinomas are malignant neoplasms of gonadal origin, which have some features in terms of age, sex, and clinical manifestations. They mainly occur in children and adolescents. Patients with intracranial germinomas mainly manifest with hypothalamic pituitary axis dysfunction and/or compression syndromes. Visual disturbance is one of the most significant clinical presentations, which is mainly caused by tumor cell infiltration into the optic pathway. In this article, we present three cases of patient with intracranial germinoma to analyze the ocular manifestations. All the three patients presented with endocrine symptoms in the early stage and with visual disturbances (including decreased visual acuity and visual field defects) later. In general, germinoma is diagnosed by its characteristic radiological appearance, supported by tumor markers and/or stereotactic biopsy. However, decisive diagnoses were established when ocular manifestations were presented. A suspicion for germinoma should be considered, when young patients manifest visual disturbances accompanied by endocrine symptoms.
Adolescent ; Adult ; Brain Neoplasms ; diagnosis ; physiopathology ; Female ; Germinoma ; diagnosis ; physiopathology ; Humans ; Male ; Middle Aged ; Vision Disorders ; physiopathology ; Young Adult

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

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

PURPOSE: To examine the prevalence of visual field deterioration in contralateral eyes of patients with worsening open-angle glaucoma and to evaluate the spatial concordance of visual field deterioration between both eyes. METHODS: One hundred sixteen open-angle glaucoma patients who underwent 8 or more visual field examinations over > or =6 years of follow-up were included. The rates of the fast and slow components of visual field decay for each of 52 visual field test locations were calculated with point-wise exponential regression analysis. The spatial concordance of visual field deterioration in contralateral eyes was evaluated with a concordance ratio (calculated as the number of overlapping locations divided by the total number of deteriorating locations) and by comparing the rate of decay in corresponding modified glaucoma hemifield test clusters. RESULTS: The average visual field mean deviation (+/-standard deviation [SD]) was -8.5 (+/-6.4) dB and the mean (+/-SD) follow-up time was 9.0 (+/-1.6) years. Sixty-three patients had mild damage, 23 had moderate damage, and 30 had severe damage. The mean concordance ratio (+/-SD) was 0.46 (+/-0.32) for the mild group, 0.33 (+/-0.27) for the moderate group, and 0.35 (+/-0.21) for the severe group. Thirty-one patients (27%) had deterioration in concordant locations (p < 0.05). Visual field deterioration was greater in the superior hemifield than the inferior hemifield (p < 0.05) when evaluated with both the concordance ratio and modified glaucoma hemifield test cluster analysis methods. CONCLUSIONS: There is only fair spatial concordance with regard to visual field deterioration between the both eyes of an individual. We conclude that testing algorithms taking advantage of inter-eye spatial concordance would not be particularly advantageous in the early detection of glaucomatous deterioration.
Aged ; Female ; Glaucoma, Open-Angle/diagnosis/*epidemiology/physiopathology ; Humans ; Male ; Middle Aged ; Prevalence ; Space Perception/*physiology ; Vision Disorders/diagnosis/*epidemiology/physiopathology ; Visual Field Tests ; Visual Fields/*physiology

Dengue fever is a viral disease that is transmitted by mosquitoes and affects humans. In rare cases, dengue fever can cause visual impairment, which usually occurs within 1 month after contracting dengue fever and ranges from mild blurring of vision to severe blindness. Visual impairment due to dengue fever can be detected through angiography, retinography, optical coherence tomography (OCT) imaging, electroretinography, event electroencephalography (visually evoked potentials), and visual field analysis. The purpose of this study is to report changes in the eye captured using fluorescein angiography, indocyanine green, and OCT in 3 cases of dengue fever visual impairment associated with consistent visual symptoms and similar retinochoroidopathic changes. The OCT results of the three patients with dengue fever showed thinning of the outer retinal layer and disruption of the inner segment/outer segment (IS/OS) junction. While thinning of the retina outer layer is an irreversible process, disruption of IS/OS junction is reported to be reversible. Follow-up examination of individuals with dengue fever and associated visual impairment should involve the use of OCT to evaluate visual acuity and visual field changes in patients with acute choroidal ischemia.
Adult ; Dengue/*complications/diagnosis/physiopathology ; Electroretinography ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Tomography, Optical Coherence/*methods ; Vision Disorders/*diagnosis/etiology/physiopathology ; *Visual Acuity ; *Visual Fields

Dengue fever is a viral disease that is transmitted by mosquitoes and affects humans. In rare cases, dengue fever can cause visual impairment, which usually occurs within 1 month after contracting dengue fever and ranges from mild blurring of vision to severe blindness. Visual impairment due to dengue fever can be detected through angiography, retinography, optical coherence tomography (OCT) imaging, electroretinography, event electroencephalography (visually evoked potentials), and visual field analysis. The purpose of this study is to report changes in the eye captured using fluorescein angiography, indocyanine green, and OCT in 3 cases of dengue fever visual impairment associated with consistent visual symptoms and similar retinochoroidopathic changes. The OCT results of the three patients with dengue fever showed thinning of the outer retinal layer and disruption of the inner segment/outer segment (IS/OS) junction. While thinning of the retina outer layer is an irreversible process, disruption of IS/OS junction is reported to be reversible. Follow-up examination of individuals with dengue fever and associated visual impairment should involve the use of OCT to evaluate visual acuity and visual field changes in patients with acute choroidal ischemia.
Adult ; Dengue/*complications/diagnosis/physiopathology ; Electroretinography ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Tomography, Optical Coherence/*methods ; Vision Disorders/*diagnosis/etiology/physiopathology ; *Visual Acuity ; *Visual Fields

This study examined the prevalence of primary open-angle glaucoma (POAG) among residents aged ≥50 years living in Yongchuan district of Chongqing. Stratified cluster sampling was employed in random selection to estimate the prevalence of glaucoma from April to June, 2005. Twenty-nine villages or neighborhood communities were randomly selected in urban area (Zhongshan Road), suburban area (Shanjiao Town) and exurban area (Zhutuo Town) of this district. All the respondents underwent detailed ophthalmic examinations. The examinations included questionnaire investigation, visual acuity test, naked-eye examination, measurement of peripheral anterior chamber depth (Van Herrick's technique), detection of intraocluar pressure (IOP) with a Perkins hand-held applanation tonometer (HA-2) and examination of the optic disc by using a 78 diopters (D) lens (including the cup-disc ratio, cup/disc ratio asymmetries, horizontal and vertical diameter, notching and optic disc hemorrhages). A total of 5938 residents were actually examined, and the response rate was 85.19%. The crude prevalence of POAG was 0.86% (n=51/5938, 95% CI 0.64%-1.11%). There were 24 males and 27 females in the glaucoma group. The glaucoma prevalence was not significant different in case number between the male and female subjects (P=0.4900). Furthermore, no association between age or schooling and POAG was noted (P=0.8030, 0.0734). Out of 51 subjects with POAG, unilateral glaucoma-related blindness occurred in 38 subjects (74.5%) and bilateral glaucoma-related blindness was found in 7 subjects (13.7%). This study exhibited that the prevalence of POAG was 0.86% among residents aged ≥50 years living in Yongchuan District of Chongqing. The vision loss caused by POAG in this population was obviously higher than that previously reported in other studies. Glaucoma management, detection of affected persons and handling of the burden of glaucoma should be the priorities of the agenda of local health authorities of Western China.
Aged ; Blindness ; diagnosis ; epidemiology ; China ; epidemiology ; Female ; Glaucoma, Open-Angle ; diagnosis ; epidemiology ; physiopathology ; Gonioscopy ; methods ; Health Surveys ; methods ; statistics & numerical data ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Prevalence ; Surveys and Questionnaires ; Vision Disorders ; diagnosis ; epidemiology

PURPOSE: Our objective was to estimate the maximum color contrast sensitivity (MCCS) thresholds in individuals with chiasma opticum damage. METHODS: The pilot study tested 41 people with pituitary adenoma (PA) and 100 age- and gender-matched controls. Patients were divided into two groups according to PA size, PA ≤1 cm or PA >1 cm. A new MCCS test program was used for color discrimination. RESULTS: The mean total error score (TES) of MCCS was 1.8 in the PA ≤1 cm group (standard deviation [SD], 0.38), 3.5 in the PA >1 cm group (SD, 0.96), and 1.4 in the control group (SD, 0.31; p < 0.001). There was a positive correlation between tumor size and MCCS result (r = 0.648, p < 0.01). In the group that had PA-producing hormones, the TES was 2.5 (SD, 1.09), compared to 4.2 value in the non-functioning PA group of patients that did not have clinically significant hormone excess (SD, 3.16; p < 0.01). In patients with normal visual acuity (VA) or visual field MCCS, the TES was 3.3 (SD, 1.8), while that in patients with VA <0.00 was 4.6 (SD, 2.9). CONCLUSIONS: Results of the MCCS test TES were 1.9 times better in patients with PA ≤1 cm compared to patients with PA >1 cm (p < 0.01). In PA patients with normal VA, the TES was 2.35 times worse than that of healthy persons (p < 0.01).
Adenoma/*complications/diagnosis ; Adolescent ; Adult ; Aged ; Color Perception/physiology ; Color Perception Tests/*methods ; Contrast Sensitivity/*physiology ; *Early Diagnosis ; Female ; Humans ; Male ; Middle Aged ; *Optic Chiasm ; Pilot Projects ; Pituitary Neoplasms/*complications/diagnosis ; Time Factors ; Vision Disorders/*diagnosis/etiology/physiopathology ; Visual Fields ; Young Adult

INTRODUCTIONNeuropsychiatric manifestations can occur in up to two-thirds of patients with systemic lupus erythematosus (SLE). The presentations as well as the underlying immunopathogenic mechanisms can be heterogeneous and therefore have an enormous impact on therapeutic options.

CLINICAL PICTUREWe describe 2 patients who presented similarly with acute onset binocular reversible visual loss. The first patient had anti-phospholipid syndrome and optic neuritis, while the second patient suffered from posterior reversible leukoencephalopathy syndrome.

TREATMENTPatient one was treated with anti-coagulation and immunosuppression while the second patient required the withdrawal of immunosuppression and supportive therapy.

OUTCOMEBoth patients responded favourably and had complete visual recovery.

CONCLUSIONSDifferent management strategies have to be employed for similar presentations having different aetiologies, underscoring the need for constant clinical vigilance.

Adult ; Antiphospholipid Syndrome ; complications ; etiology ; Brain Diseases ; etiology ; immunology ; Epilepsy, Tonic-Clonic ; etiology ; Female ; Humans ; Lupus Erythematosus, Systemic ; complications ; microbiology ; physiopathology ; therapy ; Lupus Vasculitis, Central Nervous System ; diagnosis ; Magnetic Resonance Imaging ; Optic Neuritis ; etiology ; Salmonella Infections ; complications ; Salmonella enteritidis ; Time Factors ; Vision Disorders ; etiology ; immunology