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

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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
Issue number1
Publication statusPublished - Jan 1977


ASJC Scopus subject areas

  • Ophthalmology

Cite this

Mizuno, K., Takei, Y., Sears, M. L., Peterson, W. S., Carr, R. E., & Jampol, L. M. (1977). Leber's congenital amaurosis. American journal of ophthalmology, 83(1), 32-33. https://doi.org/10.1016/0002-9394(77)90188-X