Retinal Anomalies in Trisomy 18

Overview

Journal Albrecht Von Graefes Arch Klin Exp Ophthalmol

Specialty Ophthalmology

Date 1980 Jan 1

PMID 6903110

Citations 2

Authors

A B Fulton

J L Craft

Z N Zakov

R O HOWARD

D M Albert

Affiliations

Soon will be listed here.

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 asociation of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.

Citing Articles

Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.

Calderone J, Chess J, Borodic G, Albert D Br J Ophthalmol. 1983; 67(3):162-9.

PMID: 6824623 PMC: 1040001. DOI: 10.1136/bjo.67.3.162.

[Ophthalmologic findings in trisomy 18 (Morbus Edwards) (author's transl)].

Mayer U, Grosse K, Schwanitz G Graefes Arch Clin Exp Ophthalmol. 1982; 218(1):46-50.

PMID: 6799363 DOI: 10.1007/BF02134102.

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