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.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health