Vitelliform Macular Dystrophy – VMD

Vitelliform macular dystrophy is an autosomal dominant disorder associated with a vitelliform “egg yolk” lesion that results from abnormal accumulation of lipofuscin in the retinal pigment epithelium (RPE). Lesions are usually bilateral, but can be unilateral. In the early stages, accumulation of lipofuscin-like material in the RPE is observed but acuity remains excellent. Later, the affected area becomes deeply and irregularly pigmented, and as the disorder is progressive, it eventually leads to vision loss. Some cases exhibit multiple extramacular lesions, hemorrhaging, or macular holes. Vitelliform macular dystrophy generally reveals itself in childhood or sometimes later during the teenage years. Severity of vision loss and age of onset exhibit inter- and intra-familial variability.


> Ordering information for BEST1 gene sequencing

> Ordering information for NGS panel


Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Prenatal diagnosis for known familial mutation


For further information:

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
Mol Vis. 2011;17:1607-17. Epub 2011 Jun 16.