juveniele vitelliforme maculadystrofie (aandoening)
juveniele vitelliforme maculadystrofie
juveniele maculaire dystrofie
vitelliforme maculadystrofie van Best
juveniele VMD
ziekte van Best
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
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.
Associated morphologydepositie
Finding sitestructuur van macula lutea
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van macula lutea
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map1243
SNOMED CT to ICD-10 extended map
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified