Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism

Donald U. Stone, R. Michael Siatkowski

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations. We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8. A finding that has been described in several patients with trisomy 8 is a central corneal opacity, but there are no data regarding the natural history of this finding; the corneal opacity in our patient spontaneously improved. This case expands the clinical spectrum of this rare entity.

Original languageEnglish (US)
Pages (from-to)290-291
Number of pages2
JournalJournal of AAPOS
Issue number3
StatePublished - Jun 1 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology


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