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Doc Ophthalmol. 1975 Nov 21;39(1):29-52.

Dominant cone-rod dystrophy.

Abstract

Six generations of a family were studied extensively allowing the description of an autosomal dominant dystrophy of both rods and cones. The dystrophy is characterized by onset between ages 6 and 8 with gradual decrease in vision and progression to the point of no light perception. Abnormalities of color vision, visual field, refraction, fixation behavior, fundus appearance, fluorescein angiography, electroretinography, electrooculography and dark adaptation are presented. The importance of this family in the classification of inherited retinal dystrophies is stressed and the need for an expanded classification is discussed. The role of genetic counseling is stressed in such severe diseases.

PMID:
1201699
[Indexed for MEDLINE]

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