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vitelliform macular dystrophy/arginine

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3 results

Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

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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 human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

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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

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

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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
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