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

The pediatrician needs to develop some skills in evaluating afferent visual functions and ocular motor abnormalities. He must know some fundamental neuro-ophthalmologic facts to prevent his patients from undergoing unnecessary diagnostic and surgical procedures. In addition, he needs to understand the fundamentals of strabismus and amblyopia, which are briefly considered in this article but are explored thoroughly elsewhere in this issue of PEDIATRIC ANNALS. First, the most common type of nystagmus in children is congenital nystagmus. These children often have a head turn or tilt. Also, it should be remembered that numerous drugs may cause nystagmus. Second, any child with a head turn or tilt must be considered to have some ocular motor abnormality until a complete ophthalmologic evaluation has eliminated this possibility. In addition, before a child is considered to have an isolated sixth-nerve palsy, Duane's retraction syndrome should be looked for. Also, before an inferior oblique palsy is diagnosed, a Brown's tendon sheath syndrome should be considered. Thus, any ocular muscle abnormality deserves an ophthalmologic evaluation. Third, when bilateral swollen optic nerves are noted as an incidental finding, drusen of the optic nerve head should be suspected. A unilateral swollen disk with decreased visual acuity and a Marcus Gunn pupil should bring to mind a papillitis, which is a local inflammatory condition of the optic nerve head. Remember, papilledema is a bilateral condition secondary to increased intracranial pressure with normal vision. Children with papilledema usually have other signs of increased intracranial pressure. If the article has convinced you of only two facts -- that head tilts and turns are usually ocular in origin, and that bilaterally swollen optic nerves in an otherwise asymptomatic child may be optic nerve drusen -- it has accomplished its purpose.
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PMID:Neuro-ophthalmology, for the pediatrician. 83 83

The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.
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PMID:Leber's congenital amaurosis associated with high hyperopia in four sisters. 266 98

The pediatrician needs to develop some skills in evaluating afferent visual functions and ocular motor abnormalities. He must know some fundamental neuro-ophthalmologic facts to prevent his patients from undergoing unnecessary diagnostic and surgical procedures. In addition, he needs to understand the fundamentals of strabismus and amblyopia, which are briefly considered in this article. First, the most common type of nystagmus in children is congenital nystagmus. These children often have a head turn or tilt. Also, it should be remembered that numerous drugs may cause nystagmus. Second, any child with a head turn or tilt must be considered to have some ocular motor abnormality until a complete ophthalmologic evaluation has eliminated this possibility. In addition, before a child is considered to have an isolated sixth-nerve palsy, the child should be examined for Duane's retraction syndrome. Also, before an inferior oblique palsy is diagnosed, a Brown's tendon sheath syndrome should be considered. Thus, any ocular muscle abnormality deserves an ophthalmologic evaluation. Third, when bilateral swollen optic nerves are noted as an incidental finding, drusen of the optic nerve head should be suspected. A unilateral swollen disk with decreased visual acuity and a Marcus Gunn pupil should bring to mind a papillitis, which is a local inflammatory condition of the optic nerve head. Remember, papilledema is a bilateral condition secondary to increased intracranial pressure with normal vision. Children with papilledema usually have other signs of increased intracranial pressure.
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PMID:Neuro-ophthalmology for the pediatrician. 662 78

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

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

Wernicke's encephalopathy (WE) is a potentially fatal neuropsychiatric syndrome precipitated by thiamine deficiency due to a variety of causes such as chronic severe alcoholism, starvation, and prolonged intravenous feeding. WE has also been observed rarely in the clinical setting of hyperemesis gravidarum. Here, we report the case of a 34-year-old pregnant woman who presented with reduced vision, gaze-evoked nystagmus, and postural imbalance preceded by 2 weeks of hyperemesis. Fundus examination showed features consistent with papillitis. Magnetic resonance imaging (MRI) showed T2WI, FLAIR, and diffusion-weighted imaging MR images showing hyperintensity in dorsomedial thalami and periaqueductal grey matter with diffusion restriction. She was diagnosed with WE based on history, clinical examination findings, and MRI findings and was treated with injectable thiamine. She showed marked improvement in vision and nystagmus within 3 days. Our case is a rare presentation of WE in a pregnant woman with hyperemesis gravidarum.
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PMID:Visual loss and optic neuropathy associated with Wernicke's encephalopathy in hyperemesis gravidarum. 3104 Dec 82