Retinal anomalies in trisomy 18

Anne B. Fulton; Joseph L. Craft; Z. Nicholas Zakov; Rufus O. Howard; Daniel M. Albert

doi:10.1007/BF00410989

Retinal anomalies in trisomy 18

Anne B. Fulton, Joseph L. Craft, Z. Nicholas Zakov, Rufus O. Howard, Daniel M. Albert

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

6 Scopus citations

Abstract

The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.

Original language	English (US)
Pages (from-to)	195-205
Number of pages	11
Journal	Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie
Volume	213
Issue number	3
DOIs	https://doi.org/10.1007/BF00410989
State	Published - May 1980
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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title = "Retinal anomalies in trisomy 18",

abstract = "The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.",

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AU - Craft, Joseph L.

AU - Zakov, Z. Nicholas

AU - Howard, Rufus O.

AU - Albert, Daniel M.

PY - 1980/5

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N2 - The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.

AB - The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.

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Retinal anomalies in trisomy 18

Abstract

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