Retinal hamartoma in oral-facial-digital syndrome.

  title={Retinal hamartoma in oral-facial-digital syndrome.},
  author={Patricia S Tsai and Joan M. O'Brien},
  journal={Archives of ophthalmology},
  volume={117 7},
Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. Physical examination and imaging studies of the retinal masses could not… CONTINUE READING


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