Bothnia retinal dystrophy

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Bothnia retinal dystrophy2016-11-24T21:59:35+00:00

Bothnia retinal dystrophy 

OPHTHALMOLOGY 

An autosomal recessive form (OMIM:607475) of night blindness of early childhood onset with changes of retinitis punctata albescens, followed by macular degeneration and decreased visual acuity, leading to legal blindness by early adulthood. Dark adaptometry and electrophysiologic testing show an initial loss of rod function followed by progressive loss of the cone responses in older patients. 

Molecular pathology Defects of RLBP1, which encodes retinaldehyde binding protein 1, a water-soluble protein that may play a role in the visual cycle, cause Bothnia retinal dystrophy. 

Synonyms Vasterbotten dystrophy

References http://www.uniprot.org/uniprot/P12271

http://www.omim.org/entry/607475

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