retinitis pigmentosa 19

retinitis pigmentosa 192016-10-22T14:51:04+00:00

retinitis pigmentosa 19

OPHTHALMOLOGY

Definition A pigmentary retinopathy (OMIM:601718) characterised by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells, followed by secondary loss of cone photoreceptors, and choroidal atrophy. Early in the course of disease, patients typically have poor night vision and loss of the midperipheral visual field. With disease progression, peripheral and eventually central vision is lost.

Molecular pathology Defects of ABCA4 cause retinitis pigmentosa 19. 

References http://www.uniprot.org/uniprot/P78363

http://www.omim.org/entry/601718

 

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