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)

Two brothers, 20 and 21 years of age, are reported who had a circumscribed area of atrophy of the pigment epithelium, choriocapillaris and part of the choroidal vessels in the posterior pole; they were otherwise in good health. In addition, the optic discs, particularly in the older brother had hypoplastic characteristics. Both patients were known to have had low visual acuity and nystagmus since early childhood. Electro-oculography was normal. Electroretinography and color vision tests were subnormal in both patients. Although the morphological picture showed features similar to central areolar choroidal dystrophy, familial bilateral macular colobomata, serpiginous choroiditis and some cases of cone dystrophy, there are clinical and electrophysiological reasons for differentiating the cases presented here from these other diseases.
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PMID:Juvenile atrophy of pigment epithelium and choriocapillaris. 159 87

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