Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism

Donald U. Stone; R. Michael Siatkowski

doi:10.1016/j.jaapos.2004.12.021

Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism

Donald U. Stone, R. Michael Siatkowski

School of Medicine

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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.

Original language	English (US)
Pages (from-to)	290-291
Number of pages	2
Journal	Journal of AAPOS
Volume	9
Issue number	3
DOIs	https://doi.org/10.1016/j.jaapos.2004.12.021
State	Published - Jun 1 2005

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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10.1016/j.jaapos.2004.12.021

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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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AB - 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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Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism

Abstract

ASJC Scopus subject areas

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