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Abstract
Abstract
Corneal Involvement in LCAT-Deficiency - Report on 2 Patients
Viestenz A., Küchle M., Seitz S.
Department of Ophthalmology, University Erlangen-Nuremberg
Purpose: The differential diagnosis of bilateral corneal stromal cloudiness is important to detect possibel associated systemic disorders: inflammatory diseases, mucopolysaccharidoses, HDL-deficiencies, Schnyder´s crystalline corneal dystrophy, lipidkeratopathy, cystinosis, gout and mucolipidoses.
Method: Two nonconsanguine males suffered from bilateral stromal corneal cloudiness. The cornea showed milky-whitish foggy diffuse stromal inclusions with a prominent lipoid arc. (VA R/L<20/30; in contre jour VA<20/80). 10 years ago, a "lattice corneal dystrophy" was diagnosed in one patient. The cornea was thickend bilaterally (>0.60 mm). Except the cornea, anterior and posterior segments were age-related unremarkable.
Results: Serum-HDL-levels were decreased pathologically (<8 mg/dl), such as the LCAT-(lecithin-cholesterol-acyltransferase)-activity. Target cells were found in the blood due erythrocytes membrane instability. Both patients underwent penetrating keratoplasty. Epithelial closure was not complete before 25th and 32th day postoperatively. Histologically, corneal stroma showed multiple vacuoles and multiple amyloid plaques. Using genetic analysis 2 mutations in the LCAT-gene on chromosome 16 were detected: in Exon 1, Codon 13: T13M and Exon 5, Codon 192: L192P and one mutation in Codon 123: T123I (laboratory Prof. G. Assmann, Münster).
Conclusions: T