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dominant cone-rod dystrophy type 6 (CORD6)
Pathology:
- degeneration of cone photoreceptor cells, followed by
- degeneration of rod photoreceptor cells
Genetics:
- mutation in GUCY2D gene
Clinical manifestations:
1) early loss of visual acuity & color vision (cones)
2) night blindness and peripheral visual field loss (rods)
3) phenotypic heterogeneity
Related
guanylate cyclase 2D (retinal guanylyl cyclase, GUCY2D)
General
dominant cone-rod dystrophy
Database Correlations
OMIM 601777
References
- OMIM :accession 601777