Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Toxoplasmosis was the most common cause of primary retinochoroiditis. The majority of cases of ocular toxoplasmosis were congenital. However, cases of acquired ocular toxoplasmosis have been reported. The clinical manifestations of congenital ocular toxoplasmosis were choroidal coloboma, strabismus, nystagmus, ptosis, microphthalmia, cataract and enophthalmia. The purpose of this study was to determine the clinical presentation and visual outcome of 173 patients with ocular toxoplasmosis at Dr Sardjito Hospital, Dr Yap Eye Hospital, and private practice during the last six years. A total of 173 subjects were studied--98 males and 75 females. The ages at which first diagnosis was established ranged from 3 months to 68 years, frequently in young adults and occurring mostly in students. The most-reported chief complaint was blurred vision in 70.5% and floaters in 6.1% of cases. The most frequent clinical manifestations were chorioretinitis (71.2%), macular scars (22.4%), squint (6.4%), congenital cataract (2.8%), nystagmus (6.4%) and atrophic optic papilla (2.8%). Bilateral involvement was found in 32.4% of all patients. The therapeutic outcome showed improvement, especially visual acuity in acute cases (25.6%). However, visual acuity categorized as blindness was 13.9%. The results of the study imply that suddenly blurred vision in the quiet eye in the young adult, squint, and nystagmus in children could be chorioretinal inflammation and scar caused by Toxoplasma gondii.
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PMID:Clinical manifestations of ocular toxoplasmosis in Yogyakarta, Indonesia: a clinical review of 173 cases. 1297 52

Visual disturbances are a common side-effect of many antiepileptic drugs. Non-specific retino- and neurotoxic visual abnormalities, that are often reported with over-dosage and prolonged AED use, include diplopia, blurred vision and nystagmus. Some anticonvulsants are associated with specific visual problems that may be related to the mechanistic properties of the drug, and occur even when the drugs are administered within the recommended daily dose. Vigabatrin, a GABA-transaminase inhibitor, has been associated with bilateral concentric visual field loss, electrophysiological changes, central visual function deficits including reduced contrast sensitivity and abnormal colour perception, and morphological alterations of the fundus and retina. Topiramate, a drug that enhances GABAergic transmission, has been associated with cases of acute closed angle glaucoma, while tiagabine, a GABA uptake inhibitor, has been investigated for a potential GABAergic effect on the visual field. Only mild neurotoxic effects have been identified for patients treated with gabapentin, a drug designed as a cyclic analogue of GABA but exhibiting an unknown mechanism while carbamazepine, an inhibitor of voltage-dependent sodium channels, has been linked with abnormal colour perception and reduced contrast sensitivity. The following review outlines the visual disturbances associated with some of the most commonly prescribed anticonvulsants. For each drug, the ocular site of potential damage and the likely mechanism responsible for the adverse visual effects is described.
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PMID:The effect of antiepileptic drugs on visual performance. 1512 41

Nystagmus is a rhythmic oscillation of the eyes that may be acquired or congenital. The symptoms of acquired nystagmus include blurred vision and oscillopsia. Most patients with congenital nystagmus do not have oscillopsia symptoms. Several forms of nystagmus have localizing value and any neuroimaging should be directed to the topographic localization suggested by the morphology of the nystagmus and any accompanying localizing signs. Several optical, medical, and surgical treatments have been used with some success in specific forms of nystagmus.
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PMID:Localizing forms of nystagmus: symptoms, diagnosis, and treatment. 1692 52

Many medicines, mainly with neurological purpose, interfere with the oculomotricity. The biochemistry of the oculomotor systems and thus, the mechanisms of action of these drug interferences are not completely clarified. Most medicines impair the eye movements at the level of their fine adjustment by feed-back loops implying the cerebellum. Quite often, the interferences remain asymptomatic, restricted to a saccadic pursuit, hypometric saccades or an end-point nystagmus. Sometimes however, symptoms of dizziness or oscillopsia appear, due to loss of the vestibulo-ocular reflexes efficiency. A diplopia or a blurred vision by double outline could be suggestive of an ocular motor paresis or a loss of the binocular fusion due to drugs action.
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PMID:[Oculomotor anomalies from medications]. 1771 42

Nystagmus causes blurred vision due to oscillopsia, as well as impaired balance. Depending on etiology, additional cerebellar and brain stem signs may occur. We present the current pharmacotherapy of the most common forms of central nystagmus: downbeat nystagmus (DBN), upbeat nystagmus (UBN), acquired pendular nystagmus (APN), and congenital nystagmus (CGN). Recommended medical therapies are aminopyridines (4-AP) for DBN and UBN, gabapentin and memantine for CGN and APN, and baclofen for periodic alternating nystagmus (PAN).
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PMID:[Pharmacotherapy of central oculomotor disorders]. 1863 86

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2). Hearing deficit in Harboyan is slowly progressive and typically found in patients 10-25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan). All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma). Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and Harboyan syndrome) should carefully be distinguished from the less severe autosomal dominant type CHED1. The ocular abnormalities in patients with Harboyan syndrome may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents definitive treatment. Corneal transplantation produces a substantial visual gain and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients with CHED2. Hearing aids may be necessary in adolescence.
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PMID:Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). 1892 46

Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.
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PMID:Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 2344 Nov 82

Aim. To evaluate the profile of ocular gaze abnormalities occurring following stroke. Methods. Prospective multicentre cohort trial. Standardised referral and investigation protocol including assessment of visual acuity, ocular alignment and motility, visual field, and visual perception. Results. 915 patients recruited: mean age 69.18 years (SD 14.19). 498 patients (54%) were diagnosed with ocular motility abnormalities. 207 patients had gaze abnormalities including impaired gaze holding (46), complete gaze palsy (23), horizontal gaze palsy (16), vertical gaze palsy (17), Parinaud's syndrome (8), INO (20), one and half syndrome (3), saccadic palsy (28), and smooth pursuit palsy (46). These were isolated impairments in 50% of cases and in association with other ocular abnormalities in 50% including impaired convergence, nystagmus, and lid or pupil abnormalities. Areas of brain stroke were frequently the cerebellum, brainstem, and diencephalic areas. Strokes causing gaze dysfunction also involved cortical areas including occipital, parietal, and temporal lobes. Symptoms of diplopia and blurred vision were present in 35%. 37 patients were discharged, 29 referred, and 141 offered review appointments. 107 reviewed patients showed full recovery (4%), partial improvement (66%), and static gaze dysfunction (30%). Conclusions. Gaze dysfunction is common following stroke. Approximately one-third of patients complain of visual symptoms, two thirds show some improvement in ocular motility.
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PMID:Profile of Gaze Dysfunction following Cerebrovascular Accident. 2455 1

Disorders of ocular motility due to multiple sclerosis can cause significant symptoms, such as blurred vision, diplopia, oscillopsia and dizziness. The spectrum of ocular motor disorders is broad due to the multifocal nature of the disease. The most frequent disorders include dysmetric saccades, impaired smooth pursuit, internuclear ophthalmoplegia (INO), impaired vestibulo-ocular reflex, misalignment of visual axes, impaired vergence and gaze-evoked nystagmus. Patients with abnormal eye movements are more handicapped than patients without ocular motility disorders as eye movement disorders and gait disturbances are both caused by an extensive involvement of the brainstem and cerebellum.
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PMID:[Oculomotor system and multiple sclerosis]. 2507 54

OBJECTIVE The ophthalmological outcomes of children treated for pineal tumors have received limited attention in the literature. METHODS This paper reviews the outcomes of 29 children treated for pineal and posterior third ventricular tumors in the contemporary era using chemotherapy, radiotherapy, and resection as defined by the histology and/or marker profile of the tumor. RESULTS At the time of diagnosis, all patients except 1 had hydrocephalus and all had ophthalmological involvement. Papilledema was found in 69% of patients. Seventy-five percent of patients had partial or complete Parinaud's syndrome, and diplopia or blurred vision was noted in the remaining patients. Visual acuity was impaired in 8 patients. Outcomes were dependent on the histology of the tumor and the treatment required. Those patients who did not requiring resection showed a lower rate of ophthalmological worsening during treatment and greater long-term improvement, in particular with respect to up-gaze palsy. Patients who underwent resection for postchemotherapy residual disease or primary resection showed greater worsening during treatment and lesser degrees of recovery. All patients with impaired visual acuity improved with treatment. CONCLUSIONS As the mortality of germ cell and other pineal tumors decreases, posttreatment morbidity remains, specifically that related to convergence nystagmus, accommodation, and diplopia. In addition to survival, ophthalmological morbidity should be reported in studies concerning the outcomes of treatment for pineal neoplasms.
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PMID:Ophthalmological outcomes of patients treated for pineal region tumors. 2701 19


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