Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome

Arch Ophthalmol. 1994 Jun;112(6):738-9. doi: 10.1001/archopht.1994.01090180036013.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 17*
  • Epilepsy / genetics*
  • Growth Disorders / genetics
  • Humans
  • Male
  • Melanosis / genetics*
  • Microcephaly / genetics*
  • Retina / pathology
  • Retinal Drusen / genetics*
  • Retinal Drusen / pathology
  • Ring Chromosomes*