| juveniele vitelliforme maculadystrofie (aandoening) |
| juveniele vitelliforme maculadystrofie |
| juveniele maculaire dystrofie
vitelliforme maculadystrofie van Best
juveniele VMD
ziekte van Best
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 | Dit betekent dat je steeds slechter gaat zien, vooral in het midden van wat je ziet. Dit komt door een probleem met je gele vlek. Je gele vlek zit achter in je oog en is belangrijk om scherp te kunnen zien. Dit probleem is begonnen in je kindertijd. |
| Best vitelliform macular dystrophy |
| Best disease
Vitelliform macular dystrophy type 2
Polymorphic vitelline macular degeneration
Juvenile-onset vitelliform macular dystrophy
BMD - Best macular dystrophy
BVMD - Best vitelliform macular dystrophy
Early-onset vitelliform macular dystrophy
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| A genetic macular dystrophy with characteristics of loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Onset is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. The disease then progresses through distinct stages and has characteristics of atrophy of the retinal pigment epithelium (RPE) affecting photoreceptors with impaired central visual function. In most cases, the disease is caused by mutations in BEST1 (11q12), encoding for bestrophin-1, a chloride channel expressed in RPE. A defect in this protein leads to accumulation of lipofuscin secondary to abnormal ion exchange. Inherited in an autosomal dominant manner with complete penetrance. |
