610356.G.1

United Arab Emirates

Cone/cone-rod dystrophy; Reduced visual acuity; Color vision defect

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133497.4:c.427G>T	14		Retinal Cone Dystrophy 3B

Group of 7 patients diagnosed either at birth or infancy

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610356.G.2	United Arab Emirates	Cone dystrophy		Yes		Unknown number of members from an Emirati family. (Designated as Family 9 in the publication)
610356.G.3	United Arab Emirates	Blurred vision; Nyctalopia; Retinal dystrophy; Abnormal macular morphology; Abnormal electroretinogram		Yes		Group of 14 patients from 9 families