Molecular genetics of cone-rod dystrophy : loss of ADAM9 leads to cone-rod dystrophy; mutations in CNNM4 cause Jalili syndrome, consisting of cone-rod dystrophy and amelogenesis imperfecta
The term "cone-rod dystrophy" (CORD) describes a clinically heterogeneous group of progressive retinal dystrophies characterised by predominant or equal loss of cone compared to rod photoreceptors, reduced ' visual acuity, colour vision abnormalities, photophobia and visual field loss...
Main Author: | |
---|---|
Published: |
University of Leeds
2011
|
Subjects: | |
Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.555849 |