PubMed · 1165907
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G M Smith, C M Velzeboer. 1975. Peter's anomaly.. https://doi.org/10.1159/000307538
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Deficiency of lecithin:cholesterol acyltransferase, LCAT disease, is one of the dyslipoproteinemias with characteristic lipid deposits in the cornea. The present report documents the clinicopathologic abnormalities of one case in which a full-thickness corneal specimen was obtained at the time of corneal transplantation. The characteristic clinical abnormality was a progressive corneal opacification with a peripheral arcus that extended into the sclera. The pathologic abnormality consisted of vacuoles prevalent in the anterior corneal stroma by light microscopy and containing extracellular, membranous deposits by electron microscopy. These observations confirm and supplement the previous six pathologic reports of corneal changes in LCAT disease and demonstrate, for the first time, histopathologic evidence of unesterified cholesterol in the corneal stroma of LCAT disease.
A 45-year-old man with Fabry's disease is presented. 27 relatives are examined. Among the different examinations (serum activity of alpha-galactosidase, urinary excretion of trihexosyl ceramide, renal function, ocular examination) ocular examination remains the easiest and cheapest test for detection of heterozygotes. The ocular manifestations of this enzymatic defect are reviewed.
The histological and ultrastructural pathology of two corneas that were removed from an infant with congenital glaucoma prior to keratoplasty is described. Clinically, the glaucoma was suspected to be due to an inapparent congenital viral infection, although there was no serological proof. Macroscopic and light microscopic examination of the posterior corneal surface revealed an irregular network of heavily pigmented cells that were overlying an incomplete endothelium and a grossly thickened Descemet's membrane. By scanning and transmission electron microscopy, these melanin-laden cells exhibited the features of iris stromal melanocytes. No evidence of viral infection could be found. The possible mechanisms leading to this unusual morphology are considered and will be discussed in relation to current theories on the etiology of congenital glaucoma.