Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

Pankaja Dhoble Anthony G RobsonAndrew R WebsterMichel Michaelides

Published in: Ophthalmic genetics (2023)

can present with a phenotype indistinguishable from BVMD. The same clinical phenotype may not be evident in those harboring the same variants in the heterozygous state. This has implications for genetic counselling and prognosticationA.

Keyphrases

copy number
early onset
genome wide
intellectual disability
dna methylation
autism spectrum disorder
hiv testing
hiv infected