Cone and cone–rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation

V B D Kitiratschky,S Kohl,B Wissinger,T Zabel,H Jagle,D Nagy,E Zrenner

doi:10.1136/bjo.2007.133231

Cone and cone–rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation

V B D Kitiratschky, S Kohl + Show 5 more

https://doi.org/10.1136/bjo.2007.133231

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Journal: British Journal of Ophthalmology	Publication Date: Jul 24, 2008
Citations: 28

Affiliation: STZ eyetrial

#CRX Gene #Autosomal Dominant Cone Rod Dystrophy #Cone Rod Dystrophy #Negative Electroretinogram #Electroretinogram #Marked Heterogeneity #Electrophysiological Testing #Segregation Analysis #Frameshift Mutation #Mutation In Gene

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Aim:To describe the detailed phenotypes of a multi-generation family affected by autosomal dominant cone–rod dystrophy (adCRD) and characterised by marked intrafamilial heterogeneity, due to a novel frameshift mutation in the...

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Cone and cone–rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation