Clinical study of a large family with autosomal dominant progressive cone degeneration.

@article{Small1996ClinicalSO,
  title={Clinical study of a large family with autosomal dominant progressive cone degeneration.},
  author={Kent W. Small and Karen M. Gehrs},
  journal={American journal of ophthalmology},
  year={1996},
  volume={121 1},
  pages={1-12}
}
PURPOSE Autosomal dominant cone degeneration is an uncommon disorder characterized by progressive photophobia, hemeralopia, decreased central vision, and dyschromatopsia. To better understand the variable expressivity of autosomal dominant cone degeneration, we studied a single, large family. METHODS We performed comprehensive ophthalmic examinations, full-field electroretinography, foveal electroretinography, and color vision studies on 73 family members. RESULTS Of the 73 family members… CONTINUE READING
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