fundus albipunctatus

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fundus albipunctatus2016-11-25T21:05:24+00:00

fundus albipunctatus 

fundus albipunctatus image from New Medical Terms

fundus albipunctatus

OPHTHALMOLOGY

A rare inherited form (OMIM:136880) of stationary night blindness which is characterised by discrete uniform white dots over the entire fundus with greatest density in the midperiphery, no macular involvement, and a delay in cone and rod photopigment regeneration. The condition may overlap with retinitis punctata albescens.

Molecular pathology Defects of:

RDH5, which encodes retinol dehydrogenase 5, an enzyme that catalyses the final step in 11-cis retinaldehyde synthesis, and

RLBP1, which encodes retinaldehyde binding protein 1, a protein that carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands, cause fundus albipunctatus

References http://www.uniprot.org/uniprot/Q92781

http://www.omim.org/entry/136880

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