vitelliform macular dystrophy/arginine

BACKGROUND To identify genetic mutations of the VMD2 gene in two Thai families with Best macular dystrophy. METHODS Ophthalmic examination including best-corrected visual acuity (BCVA), dilated fundus examination and fundus photography, and electro-oculography (EOG) was performed in two probands and

Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have

Mutations in the human vitelliform macular dystrophy type 2 (VMD2) gene are known to cause autosomal dominant Best macular dystrophy (BMD), a degenerative disorder of the central retina. VMD2, together with VMD2L1, VMD2L2 and VMD2L3, belong to a closely related gene family characterized by several