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 language||English (US)|
|Number of pages||2|
|Journal||Journal of AAPOS|
|State||Published - Jun 1 2005|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health