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Updated: Aug 17, 2026

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
Published on: January 12, 2022
Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism
Donald U Stone1, R Michael Siatkowski
1Department of Ophthalmology, Dean A. McGee Eye Institute, University of Oklahoma, Oklahoma City 73104, USA.
Abstract:
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.
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