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BESTS DISEASE [1 record]
Record 1 - internal organization data 2025-08-27
Record 1, English
Record 1, Subject field(s)
- Visual Disorders
Record 1, Main entry term, English
- Best's disease
1, record 1, English, Best%27s%20disease
correct, noun
Record 1, Abbreviations, English
Record 1, Synonyms, English
- Best disease 2, record 1, English, Best%20disease
correct, noun
- Best's vitelliform macular dystrophy 3, record 1, English, Best%27s%20vitelliform%20macular%20dystrophy
correct, noun
- BVMD 3, record 1, English, BVMD
correct, noun
- BVMD 3, record 1, English, BVMD
- Best vitelliform macular dystrophy 4, record 1, English, Best%20vitelliform%20macular%20dystrophy
correct, noun
- BVMD 4, record 1, English, BVMD
correct, noun
- BVMD 4, record 1, English, BVMD
- Best macular dystrophy 5, record 1, English, Best%20macular%20dystrophy
correct, noun
- early-onset vitelliform macular dystrophy 6, record 1, English, early%2Donset%20vitelliform%20macular%20dystrophy
correct, noun
- juvenile-onset vitelliform macular dystrophy 6, record 1, English, juvenile%2Donset%20vitelliform%20macular%20dystrophy
correct, noun
- juvenile vitelliform macular dystrophy 7, record 1, English, juvenile%20vitelliform%20macular%20dystrophy
correct, noun
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, French
Record 1, Domaine(s)
- Troubles de la vision
Record 1, Main entry term, French
- maladie de Best
1, record 1, French, maladie%20de%20Best
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- dystrophie maculaire vitelliforme de Best 2, record 1, French, dystrophie%20maculaire%20vitelliforme%20de%20Best
correct, feminine noun
- dystrophie vitelliforme de Best 2, record 1, French, dystrophie%20vitelliforme%20de%20Best
correct, feminine noun
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, Spanish
Record 1, Campo(s) temático(s)
- Trastornos de la visión
Record 1, Main entry term, Spanish
- enfermedad de Best
1, record 1, Spanish, enfermedad%20de%20Best
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
- distrofia macular viteliforme de Best 1, record 1, Spanish, distrofia%20macular%20viteliforme%20de%20Best
correct, feminine noun
- DMVB 1, record 1, Spanish, DMVB
correct, feminine noun
- DMVB 1, record 1, Spanish, DMVB
- distrofia viteliforme de Best 1, record 1, Spanish, distrofia%20viteliforme%20de%20Best
correct, feminine noun
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
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