[Skip to Content]
[Skip to Content Landing]
January 1972


Author Affiliations

Heidelberg, Germany

Arch Ophthalmol. 1972;87(1):112. doi:10.1001/archopht.1972.01000020114023

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


To the Editor.  —We have to confess that we overlooked this most interesting paper; the Journal of Pediatric Ophthalmology was not available in our department until now.We consider this paper to be very important, so we add a reference to it when answering the reprint requests.Since we lacked bone marrow deposits which had been found in a small number of cases (three with, one without), the estimation confirming or ruling out the diagnosis may be somewhat arbitrary.We used TLC-technique which renders a semiquantitative estimation of all occurring amino acids; in comparison to the normal spectrum, cystine was unequivocally and strongly elevated. Lipids were not tested in the biopsy material.The Table shows additional chemical data. This pattern of serum lipids does not suggest characteristic disturbance of lipid metabolism.Describing familial cholesterol ester deficiency, Gjone and Bergaust point out that "their corneae showed a nebulous cloudiness and an

First Page Preview View Large
First page PDF preview
First page PDF preview