Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder.

  title={Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder.},
  author={Victor Godel and Antonio Romano and Rosanne Stein and A. Adam and Richard M Goodman},
  journal={American journal of ophthalmology},
  volume={86 2},
The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophthalmoscopic findings varied in shape and extension; they ranged from retinal folds to dysplastic tissue covering the posterior pole or gliosis with tumor-like protrusion in the vitreous. The marked variability of the retinal findings was paralleled by… CONTINUE READING

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