TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

Best disease (Best vitelliform macular dystrophy, BVMD) is a rare autosomal dominant disorder due to the mutation of BEST1 (or VMD2, TU15B ...) gene with incomplete penetrance and variable expression which typically presents in childhood. However, there are also reports of autosomal recessive BVMD. Its characteristic presentation is by bilateral fundus changes of egg-yolk appearance (as in a fried egg with sunny side up) at the macula in both eyes. The retinal pigment epithelium (RPE) is primarily affected. ... The visual prognosis of the disease is usually good, usually maintaining driving/reading capability in at least one eye throughout life.  5, record 1, English, - Best%27s%20disease

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 CONT

La maladie de Best [...] est une affection génétique à transmission autosomique dominante. Le gène responsable est localisé sur le bras long du chromosome 11. L’affection est caractérisée par une accumulation d’un matériel (lipofuscine) au sein de l’épithélium pigmentaire de la rétine. L’affection étant à transmission dominante, le diagnostic est habituellement porté dans l’enfance lors d’un examen systématique d’un enfant, de père ou de mère atteint. [...] L’aspect du fond d’œil est habituellement typique, permettant le diagnostic dès l’examen : présence d’un disque arrondi ou ovalaire, jaunâtre, discrètement surélevé mesurant d’un demi à trois diamètres papillaires. L’aspect du fond d’œil ressemble à un œuf sur le plat [...]  3, record 1, French, - maladie%20de%20Best

Record 1,  Textual support,  Spanish

Record number: 1, Textual support number: 1 DEF

Maculopatía de herencia autosómica dominante, con una expresividad y penetrancia variables, relacionada con mutaciones del gen bestrophin localizadoen el cromosoma 11, [...] típicamente bilateral y de aparición en la infancia, [con] lesión amarillenta por acúmulo de lipofuscina [...]  1, record 1, Spanish, - enfermedad%20de%20Best

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 CONT

Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an "egg yolk" macular lesion eventually evolving towards foveal atrophy and fibrosis.  8, record 2, English, - adult%2Donset%20vitelliform%20macular%20dystrophy

Record number: 2, Textual support number: 2 CONT

Adult vitelliform macular dystrophy. ... It is characterized by a focal, round or oval shaped, subretinal yellowish foveal lesion, often with one or more pigment stops on the anterior surface at the level of the pigment epithelium. The lesions may vary in size but are typically one third to one half of a disc diameter, and are usually bilateral and symmetrical. Patients usually present in the fourth or fifth decade of life and tend to have minimal visual symptoms ... The disorder differs from ... Best's disease ... in that foveal lesions are smaller, it presents at a later age, it does not demonstrate evolutionary changes of the foveal lesion, and the light-induced rise in ocular potential is rarely absent.  9, record 2, English, - adult%2Donset%20vitelliform%20macular%20dystrophy

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 CONT

Dystrophie pseudo-vitelliforme de l'adulte. [...] Elle est caractérisée par un dépôt de matériel souvent unique et arrondi, à l'aspect de «jaune d’œuf sur le plat», similaire à l'aspect précoce de la dystrophie vitelliforme de Best, avec laquelle elle a souvent été confondue. Son évolution tend vers l'atrophie maculaire ou plus rarement, vers la néovascularisation.  3, record 2, French, - dystrophie%20maculaire%20vitelliforme%20de%20l%26rsquo%3Badulte

Record 2,  Textual support,  Spanish