Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple sclerosis is a disease of the central nervous system whose clinical manifestations include animportant group of ocular pathologies, e.g., unilateral retrobulbar neuritis, uveitis, decreased visual function, nystagmus, internuclear ophthalmoplegia, diplopia, optic papillitis and Marcus Gunn pupil. Additionally, it is not generally appreciated that bitemporal hemianopia, usually associated with tumors of the optic chiasm, may also result from multiple sclerosis. Since most of a patient's life is spent in the remission phase of the disease, it is important for the practitioner to recognize the ocular findings present during this period. Additionally, studies have shown that such patients lead longer and more productive lives than most practitioners realize, and often have prolonged periods of remission. While the onset of the disease may present with ocular symptoms, such as loss of vision or diplopia, the patients tend to recover and retain relatively good function for many years.
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PMID:The ocular manifestations of multiple sclerosis. 59 46

Disorders of pigmentation can result from either an abnormal number of melanocytes, as in nevus of Ota and vitiligo, or an abnormal amount of melanin production, as in albinism. Melanin-producing cells are found in the skin, mucous membranes, uveal tract, and retinal pigment epithelium of the eye and the stria vascularis of the inner ear. Thus, many of the hereditary or congenital pigmentary disorders of the skin are associated with similar pigmentary abnormalities in the eye, such as iris heterochromia or changes in pigmentation of the fundus; however, more commonly, the associated eye finding is a defect in ocular motility, i.e., strabismus and nystagmus, suggesting a concomitant defect in neurologic development. In albinos, the observed neurologic abnormality in the visual pathway and foveal hypoplasia are hypothesized to be related directly to the lack of melanin in the pigment epithelium during development. In acquired disorders of pigmentation, in particular, vitiligo, Vogt-Koyanagi-Harada syndrome, and onchocerciasis, there is a frequent association with uveitis, suggesting an inflammatory cause for the cutaneous pigmentary changes.
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PMID:Ocular manifestations of pigmentary disorders. 161 18

The authors evaluated complications which appeared in 113 eyes in 66 patients treated for congenital glaucoma. The most frequent early complication connected with the surgical procedure was an anterior chamber haemorrhage (in 22 eyes). Individual cases exhibited intravitreal haemorrhage (5 eyes) and uveitis (2 eyes). Among the late complications prevailed complicated cataract (in 30 eyes), less frequently nystagmus (11 eyes), intraocular infection (9 eyes), squint (17 eyes) and internal hemophthalmos.
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PMID:[Visual function and professional preparation of persons with congenital glaucoma. IV. Complications of congenital glaucoma]. 261 84

BTX injection has been used for 11 years by 292 ophthalmologists in 8,854 patients aged three months to 90 years in a variety of eye muscle and eyelid disorders. No systemic toxic reaction has occurred, local complications are few, and visual loss has not occurred in any case. In blepharospasm and hemifacial spasm BTX appears to fill an important need, since no other drug is reliably effective and since surgical interventions have substantial side effects. Strabismus cases with active uveitis, hypotony, previous detachment surgery, active thyroid eye disease, and recent paralytic strabismus are often poor candidates for surgical intervention. Some patients in each of these categories were treated effectively and safely by BTX injection. Surgery is clearly the preferred treatment modality in large angle deviations, in chronic paralytic strabismus, in cases where diplopia for a month or two from injection would incapacitate the patient, in nystagmus, in oblique muscle disorders and A-V patterns, where muscles have been misplaced and where restrictions to alignment have been created by disease or prior surgery. Side by side comparisons of surgery and injection in congenital esotropia and in concomitant strabismus of 50 PD or less should result in further clarification of treatment choices as to effectiveness, side effects and cost. BTX is presently available only to clinical investigators using the drug under research protocols.
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PMID:Botulinum toxin therapy of eye muscle disorders. Safety and effectiveness. American Academy of Ophthalmology. 277 91

In a retrospective review, the eye symptoms of 17 children (mean age: 13 1/2 years) who had definite multiple sclerosis (Poser's criteria) and 15 who had probable multiple sclerosis over the last 18 years were evaluated. Follow-up varied from 3 weeks to 6 years. Of 94% of children (16 of 17) with ophthalmologic symptoms, 47% (8 of 17) presented with an initial disturbance of vision. Twelve children had optic neuritis, 1 progressive uveitis, and 4 brainstem symptoms (i.e., VIth nerve palsy, 1 1/2 syndrome, internuclear ophthalmoplegia). Four children had cerebellar signs (nystagmus, saccadic pursuit). In 4 children, clinical localization was less specific. Recovery was generally good in most of the children; cerebellar problems were most persistent. Multimodal potentials were more helpful for investigation of optic neuritis and cerebellar lesions than for brainstem lesions. In the cohort of probable multiple sclerosis of 15 children, 11 had eye symptoms (5 with neuromyelitis optica, 4 optic neuritis, 1 internuclear ophthalmoplegia, and 1 cerebellar symptoms). Ophthalmologic symptoms are slightly more frequent in children with multiple sclerosis than in adults and should be specifically investigated to establish the diagnosis.
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PMID:Eye problems in children with multiple sclerosis. 761 86

Neuro-ophthalmic manifestations are important in multiple sclerosis. Optic neuritis is a frequent harbinger of the disease, and is characterized by subacute painful visual loss, with disproportionate loss of color and contrast sensitivity, central or cecocentral scotoma, and an afferent pupillary defect. Visual recovery is the rule, but tests have been developed to detect most cases of recovered optic neuritis. Intraocular inflammation has come to be recognized as a frequent accompaniment of multiple sclerosis. Because of the predilection of multiple sclerosis for the infratentorial white matter, defects in eye movement control are common, particularly internuclear ophthalmoplegias and nystagmus.
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PMID:Neuro-ophthalmology of multiple sclerosis. 774 86

We report a case of a 53-year-old man with Behcet's disease (BD) and paradoxical stroke. This patient suddenly developed sensory aphasia, right oculomotor palsy, nystagmus, and left ataxic hemiparesis. MR images showed fresh embolic infarcts in the midbrain and the left parietotemporal lobe. He presented with uveitis, oral aphthous ulcers and genital ulcers. An electrocardiogram revealed no abnormalities, and a transesophageal echocardiogram disclosed a patent foramen ovale. Since venous involvement is common in BD, we suspected the presence of smaller thrombi probable in this patient. We conclude that embolic stroke is a notable complication of BD with right-to-left shunting.
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PMID:Embolic stroke with a patent foramen ovale and Behcet's disease. 1589 45

Toxoplasmosis is the most common cause of posterior uveitis in immunocompetent subjects. The infection can be congenital or acquired. Ocular symptoms are variable according to the age of the subject. For instance, young children present with reduced visual acuity, strabismus, nystagmus, and leucocoria, while teenagers and adults complain of decreased vision, floaters, photophobia, pain, and hyperemia. Toxoplasmic retinochoroiditis typically affects the posterior pole, and the lesions can be solitary, multiple or satellite to a pigmented retinal scar. Active lesions present as grey-white focus of retinal necrosis with adjacent choroiditis, vasculitis, hemorrhage and vitreitis. Cicatrization occurs from the periphery towards the center, with variable pigmentary hyperplasia. Anterior uveitis is a common finding, with mutton-fat keratic precipitates, fibrine, cells and flare, iris nodules and posterior synechiae. Atypical presentations include punctate outer retinitis, neuroretinitis, papillitis, pseudo-multiple retinochoroiditis, intraocular inflammation without retinochoroiditis, unilateral pigmentary retinopathy, Fuchs'-like anterior uveitis, scleritis and multifocal or diffuse necrotizing retinitis. The laboratory diagnosis of toxoplasmosis is based on detection of antibodies and T. gondii DNA using polymerase chain reaction (PCR). Toxoplasmosis therapy includes specific medication and corticosteroids. There are several regimens, with different drug combinations. Medications include pirimetamine, sulfadiazine, clindamycin, trimethoprime-sulphamethoxazol, spiramycin, azithromycin, atovaquone, tetracycline and minocycline. The prognosis of ocular toxoplasmosis is usually good in immunocompetent individuals, as long as the central macula is not directly involved.
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PMID:Toxoplasmosis. 1628 46

Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males. It is characterized by cutaneous, ocular, dental, and central nervous system (CNS) abnormalities and about 35% of patients develop some form of ocular abnormality, which may include retinal vascular abnormalities, ischemic retinal infarctions, retinal detachments, cataracts, uveitis, strabismus, and nystagmus. Incontinentia pigmenti has been linked to the NEMO gene, which is mapped to Xq28.
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PMID:Fluorescein angiographic findings in a male infant with incontinentia pigmenti. 1749 89

Toxoplasmosis is a parasitic zoonosis which occurs worldwide and is an important cause of blindness. The infection is naturally acquired by the ingestion of oocysts excreted by infected cats or by ingestion of tissue cysts in undercooked or raw meat. Primary infection during pregnancy may result in a congenital infection. Toxoplasmic retinochoroiditis is the most common cause of posterior uveitis in immunocompetent patients. Depending on the patient's age, ocular symptoms vary presenting with reduced visual acuity, strabismus, and nystagmus in young children - in adults decreased vision and floaters are most frequently reported. Active toxoplasmic retinochoroiditis typically presents as grey-white retinal necrosis with choroiditis, vasculitis and vitritis. However, atypical presentations including neuroretinitis, papillitis, Fuchs-like anterior uveitis, scleritis and acute retinal necrosis have been described. The diagnosis is based on clinical findings and can be supported by the detection of antibodies and Toxoplasma gondii DNA. Toxoplasmosis therapy includes antimicrobial drugs and corticosteroids. There are several regimens with different drug combinations including, among others, pyrimethamine, sulfadiazine, clindamycin, and trimethoprim-sulfamethoxazol. The prognosis for ocular toxoplasmosis is favorable in immunocompetent individuals, as long as the central macula is not directly involved. The present article reviews the epidemiology, pathogenesis, clinical presentation and management of toxoplasmic retinochoroiditis.
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PMID:[Ocular toxoplasmosis]. 1753 Feb 62


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