Overaction of the inferior oblique(IO) muscle is manifested by elevation of the adducted eye and from the clinical point of view there are two types of overaction. The primary type is of unknown cause, whereas the secondary type is usually related to the palsy of the ipsilateral superior oblique or contralateral superior rectus. An ultrastructural study on the overacting IO muscles was performed compared to normal IO muscles by electron microscopy. Of 16 biopsies of overacting IO muscles, four had primary overacting inferior obliques and twelve had secondary overacting inferior obliques due to paralysis of superior oblique muscle. Additional four IO muscle, obtained from patients with intraocular diseases served as control specimens. The most striking abnormalities were aggregations of mitochondria and degenerating mitochondrial profiles and increased vacuolization in primary and secondary overacting muscles. Many muscle fibers were in different stages of atrophy, and hypertrophy and regeneration of muscle fibers were sometimes visible. The results suggest that the primary overacting IO muscle might be the result of a paresis of the superior oblique muscle.
Biopsy ; Humans ; Mitochondria/ultrastructure ; Ocular Motility Disorders/*pathology ; Oculomotor Muscles/*ultrastructure ; Ophthalmoplegia/pathology ; Vacuoles/ultrastructure

Opsoclonus-myoclonus syndrome (OMS) is characterized by opsoclonus and arrhythmic myoclonic jerks predominantly involving the trunk, limbs, and head. We present two patients with OMS after respiratory tract infection who exhibited diffuse cerebral hypometabolism, particularly in the parieto-occipital cortex on 18F-fluorodeoxyglucose positron-emission tomography (F-FDG PET). This metabolic change might be a consequence rather than a direct cause of motor symptoms, which may be attributable to brainstem or cerebellar pathology.
Brain Stem ; Extremities ; Head ; Humans ; Myoclonus ; Ocular Motility Disorders ; Opsoclonus-Myoclonus Syndrome* ; Pathology ; Positron-Emission Tomography ; Respiratory Tract Infections

PURPOSE: To define the long-term results of accommodation insufficiency and to investigate the correlation between accommodation insufficiency and other factors including near point of convergence (NPC), age, and refractive errors. METHODS: From January 2008 to December 2009, 11 patients with acute near vision disturbance and remote near point of accommodation (NPA) were evaluated. Full ophthalmologic examinations, including best corrected visual acuity, manifest refraction and prism cover tests were performed. Accommodation ability was measured by NPA using the push-up method. We compared accommodation insufficiency and factors including age, refractive errors and NPC. We also investigated the recovery from loss of accommodation in patients. RESULTS: Mean age of patients was 20 years (range, 9 to 34 years). Five of the 11 patients were female. Mean refractive error was -0.6 diopters (range, -3.5 to +0.25 diopters) and 8 of 11 patients (73%) had emmetropia (+0.50 to -0.50 diopters). No abnormalities were found in brain imaging tests. Refractive errors were not correlated with NPA or NPC (rho = 0.148, p = 0.511; rho = 0.319, p = 0.339; respectively). The correlation between age and NPA was not significant (rho = -395, p = 0.069). However, the correlation between age and NPC was negative (rho = -0.508, p = 0.016). Three of 11 patients were lost to follow-up, and 6 of 8 patients had permanent insufficiency of accommodation. CONCLUSIONS: Accommodation insufficiency is most common in emmetropia, however, refractive errors and age are not correlated with accommodation insufficiency. Dysfunction of accommodation can be permanent in the isolated accommodation insufficiency.
*Accommodation, Ocular ; Acute Disease ; Adolescent ; Adult ; Child ; *Convergence, Ocular ; Diplopia/*etiology/pathology ; Female ; Follow-Up Studies ; Humans ; Male ; Ocular Motility Disorders/*complications/pathology ; Refractive Errors/*complications/pathology ; Retrospective Studies ; Young Adult

PURPOSE: To define the long-term results of accommodation insufficiency and to investigate the correlation between accommodation insufficiency and other factors including near point of convergence (NPC), age, and refractive errors. METHODS: From January 2008 to December 2009, 11 patients with acute near vision disturbance and remote near point of accommodation (NPA) were evaluated. Full ophthalmologic examinations, including best corrected visual acuity, manifest refraction and prism cover tests were performed. Accommodation ability was measured by NPA using the push-up method. We compared accommodation insufficiency and factors including age, refractive errors and NPC. We also investigated the recovery from loss of accommodation in patients. RESULTS: Mean age of patients was 20 years (range, 9 to 34 years). Five of the 11 patients were female. Mean refractive error was -0.6 diopters (range, -3.5 to +0.25 diopters) and 8 of 11 patients (73%) had emmetropia (+0.50 to -0.50 diopters). No abnormalities were found in brain imaging tests. Refractive errors were not correlated with NPA or NPC (rho = 0.148, p = 0.511; rho = 0.319, p = 0.339; respectively). The correlation between age and NPA was not significant (rho = -395, p = 0.069). However, the correlation between age and NPC was negative (rho = -0.508, p = 0.016). Three of 11 patients were lost to follow-up, and 6 of 8 patients had permanent insufficiency of accommodation. CONCLUSIONS: Accommodation insufficiency is most common in emmetropia, however, refractive errors and age are not correlated with accommodation insufficiency. Dysfunction of accommodation can be permanent in the isolated accommodation insufficiency.
*Accommodation, Ocular ; Acute Disease ; Adolescent ; Adult ; Child ; *Convergence, Ocular ; Diplopia/*etiology/pathology ; Female ; Follow-Up Studies ; Humans ; Male ; Ocular Motility Disorders/*complications/pathology ; Refractive Errors/*complications/pathology ; Retrospective Studies ; Young Adult

A 51-year-old woman with breast cancer presented with progressive diplopia. Neuro-ophthalmologic examination revealed right gaze palsy and peripheral facial nerve palsy. Brain magnetic resonance imaging (MRI) was normal. However, two months later a repeat brain MRI revealed an enhancing round nodular mass at the right facial colliculus of the lower pons, at the location of the abducens nucleus. Localized metastasis to the abducens nucleus can cause gaze palsy in a patient with breast cancer.
*Abducens Nerve Diseases ; Breast Neoplasms/*pathology ; Cranial Nerve Neoplasms/*complications/*secondary ; Facial Paralysis/complications ; Female ; Fixation, Ocular ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Ocular Motility Disorders/*etiology/physiopathology ; Pons/pathology

Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures. Ophthalmologic examination revealed that the patient could not fixate her eyes on objects nor follow moving targets. A pale optic disc and a cherry red spot in the macula were seen in both eyes. Low signal intensity at the thalamus and high signal intensity at the cerebral white matter were noted in a T2-weighted brain MR image. A lysosomal enzyme assay using fibroblasts showed the marked reduction of both total beta-hexosaminidases, A and B. Based on the above clinical manifestations and laboratory findings, we diagnosed the patient as having Sandhoff disease.
Atrophy ; Cerebral Cortex/*pathology ; Child, Preschool ; Female ; Humans ; Isoenzymes/deficiency ; Lipid Metabolism, Inborn Errors/*diagnosis/enzymology ; Magnetic Resonance Imaging ; Ocular Motility Disorders/*diagnosis ; Optic Disk/*pathology ; Retinal Diseases/*diagnosis ; Sandhoff Disease/*diagnosis/enzymology ; Thalamus/pathology ; beta-N-Acetylhexosaminidase/deficiency

We characterized and compared the characteristics of Ca2+ movements through the sarcoplasmic reticulum of inferior oblique muscles in the various conditions including primary inferior oblique overaction (IOOA), secondary IOOA, and controls, so as to further understand the pathogenesis of primary IOOA. Of 15 specimens obtained through inferior oblique myectomy, six were from primary IOOA, 6 from secondary IOOA, and the remaining 3 were controls from enucleated eyes. Ryanodine binding assays were performed, and Ca2+ uptake rates, calsequestrins and SERCA levels were determined. Ryanodine bindings and sarcoplasmic reticulum Ca2+ uptake rates were significantly decreased in primary IOOA (p < 0.05). Western blot analysis conducted to quantify calsequestrins and SERCA, found no significant difference between primary IOOA, secondary IOOA, and the controls. Increased intracellular Ca2+ concentration due to reduced sarcoplasmic reticulum Ca2+ uptake may play a role in primary IOOA.
Sarcoplasmic Reticulum Calcium-Transporting ATPases ; Sarcoplasmic Reticulum/*metabolism ; Ryanodine Receptor Calcium Release Channel/metabolism ; Ryanodine/metabolism ; Oxalates/metabolism ; Oculomotor Muscles ; Ocular Motility Disorders/*metabolism/*pathology ; Muscles/*pathology ; Models, Statistical ; Middle Aged ; Male ; Humans ; Female ; Child, Preschool ; Child ; Calsequestrin/metabolism ; Calcium-Transporting ATPases/metabolism ; Calcium/metabolism/*pharmacokinetics ; Blotting, Western ; Aged ; Adult ; Adolescent

Primary intracranial germ cell tumors(GCTs) are relatively rare brain tumors that show a diverse range of histologic features from benign to highly malignant conditions. To determine their clinical findings, pathology, treatment and outcome, we analyzed the medical records of 45 patients with primary intracranial GCTs treated at our hospital between June 1989 and December 1996. Thirty-two were males and 13 were females, and their ages ranged from three to 43 years. Fifteen cases were located in the pineal region and 13 in the suprasellar. The remaining locations were the basal ganglia in eight cases, both the pineal and suprasellar region in five, and others in four. In the pineal region, there was a male predominance(13:2), but in the suprasellar region, more cases(ten of 13) involved females. Of the 15 patients with tumors of the pineal region, increased intracranial pressure(IICP) was evident in 12 and six had Parinaud's syndrome. Of the 13 patients with tumors of suprasellar region, nine had diabetes insipidus; seven, visual deficit; and six, hypopituitarism. Germinoma was the most common histologic type. Other types of histology were two teratomas, three embryonal carcinomas, one endodermal sinus tumor, one choriocarcinoma, and five mixed GCTs. All patients except those with a teratoma underwent whole craniospinal irradiation. We performed gross total or subtotal removal in cases of non-germinomatous GCTs(NGGCTs) and mixed tumors, but biopsy or partial removal was preferred for the germinomas. Thirteen of 45 patients received adjuvant chemotherapy. All malignant NGGCT and mixed tumor patients were treated with adjuvant chemotherapy, as well as three of 33 germinoma patients. Three of five malignant NGGCT patients and two of five mixed tumor patients died of tumor progression. Two of 33 germinoma patients died not of disease progression but of other causes. Actuarial survival records showed that overall two-year and five-year survival rates were 89.9% and 71.9%, respectively. There were no statistically significant differences with regard to patient's age, sex, or tumor location. With regard to their histology and surgical extent, malignant NGGCTs and mixed tumors showed statistically significant differences. Five-year surival rates of germinoma and malignant NGGCT patients were 83.1% and 53.3%, respectively. We suppose that the appropriate combination of chemotherapy and surgery, with or without radiation therapy, remains to be defined, and that to determine the appropriate management protocol for malignant NGGCTs and mixed tumors, larger series of patients must be analyzed.
Basal Ganglia ; Biopsy ; Brain Neoplasms ; Carcinoma, Embryonal ; Chemotherapy, Adjuvant ; Choriocarcinoma ; Craniospinal Irradiation ; Diabetes Insipidus ; Disease Progression ; Drug Therapy ; Endodermal Sinus Tumor ; Female ; Germ Cells* ; Germinoma ; Humans ; Hypopituitarism ; Male ; Medical Records ; Neoplasms, Germ Cell and Embryonal* ; Ocular Motility Disorders ; Pathology ; Pregnancy ; Survival Rate ; Teratoma