cone-rod dystrophy 3

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cone-rod dystrophy 32016-11-25T13:02:17+00:00

cone-rod dystrophy 3 

OPTHALMOLOGY

Definition Cone-rod dystrophy 3 is an inherited retinal dystrophy (OMIM:604116) characterised by retinal pigment deposits predominantly in the macular region on fundus examination, and early loss of cone photoreceptors followed by rod degeneration, leading to reduced visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision.

Severe loss of vision occurs earlier in cone-rod dystrophy than in retinitis pigmentosa.

Molecular pathology Defects of ABCA4, which encodes an ABC transporter that is expressed exclusively in retina photoreceptor cells, cause cone-rod dystrophy 3. 

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

http://www.omim.org/entry/604116

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