A case report of histopathology and family pedigree in a patient with lecithin cholesterol acyltransferase deficiency

D. A. Abrams*, J. B. Lasky, H. R. Katz, W. R. Green

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: A case report of lecithin cholesterol acyltransferase deficiency with progressive corneal opacification requiring penetrating keratoplasty secondary to decreasing visual acuity. Methods: Review of tissue pathology (patient's corneal button, deceased brother's kidney biopsy), family medical history and LCAT activity values in a patient and family members (mother, living brother, sister). Results: Electron microscopy of the corneal button revealed multiple round spaces containing electron dense multilaminated material throughout the corneal stroma. The patient had non-detectable LCAT activity, corneal opacification, hyperlipidemia and mild renal dysfunction. A family pedigree revealed clinical attributes and tissue pathology consistent with LCAT deficiency on the paternal side. The father had corneal opacification consistent with this disorder. The deceased male sibling also had corneal opacification, anemia and renal dysfunction. A renal biopsy revealed multiple electron dense deposits throughout the tissue. The mother, sister and living brother, had normal LCAT activity and no evidence of corneal abnormality, hyperlipidemia or renal dysfunction. Conclusion: A case report suggesting a possible autosomal dominant genetic expression in a rare syndrome previously documented as autosomal recessive.

Original languageEnglish (US)
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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