Leber's congenital amaurosis

K. Mizuno, Y. Takei, M. L. Sears*, W. S. Peterson, Ronald E. Carr, L. M. Jampol

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

Original languageEnglish (US)
Pages (from-to)32-33
Number of pages2
JournalAmerican journal of ophthalmology
Volume83
Issue number1
DOIs
StatePublished - Jan 1977

ASJC Scopus subject areas

  • Ophthalmology

Fingerprint Dive into the research topics of 'Leber's congenital amaurosis'. Together they form a unique fingerprint.

Cite this