Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

@article{RussellEggitt1989LebersCA,
  title={Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.},
  author={Isabelle Mary Russell-Eggitt and David Samuel Irving Taylor and Peter Theodore Clayton and Alana Garner and Anthony Kriss and John F Taylor},
  journal={The British journal of ophthalmology},
  year={1989},
  volume={73 4},
  pages={250-4}
}
Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light… CONTINUE READING

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Seven members of four families had nystagmus noted by 4 months of age , poor vision , photophobia , and a markedly reduced or absent electroretinogram .
Seven members of four families had nystagmus noted by 4 months of age , poor vision , photophobia , and a markedly reduced or absent electroretinogram .
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