PMID: 1201699Dec 1, 1975Paper

Dominant cone-rod dystrophy

Documenta Ophthalmologica. Advances in Ophthalmology
H M HittnerD B Chokshi

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.

References

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Citations

Jan 1, 1983·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·G Niemeyer, E Demant
Nov 1, 1977·The British Journal of Ophthalmology·R H GreyW M Barnard
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Feb 28, 2007·Veterinary Ophthalmology·Ernst O RopstadKristina Narfström
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Mar 1, 1986·Ophthalmic Paediatrics and Genetics·G GorgoneF Mollica
Jun 1, 1989·Acta Ophthalmologica·M Mäntyjärvi, K Tuppurainen

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