Lecithin cholesterol acyltransferase deficiency: A case report of corneal histopathology and review of family history

Background: We present a case report of familial lecithin cholesterol acyltransferase (LCAT) deficiency with progressive corneal opacification requiring bilateral penetrating keratoplasty in a 50-year-old woman. She presented complaining of decreasing visual acuity of both eyes over the past ten years. Eye examination revealed that compared to an exam done 24 years earlier, she had a greater degree of diffuse corneal haze, and a more prominent areas. Congenital hereditary stromal dystrophy was suspected. Methods: A family medical history was obtained. LCAT activity values were determined in the patient and living family members (mother, brother, sister). A light and electron microscopic study of the patient's corneal buttons was performed. A kidney biopsy sample of the patient's recently deceased brother was obtained for re-examination. Results: Electron microscopy of the patient's corneal button revealed multiple round spaces containing electron dense multilaminated material throughout the corneal stroma. The patient had trace LCAT activity, corneal opacification, hyperlipidemia, and mild renal dysfunction. The family history revealed clinical attributes and tissue pathology consistent with LCAT deficiency on the paternal side. The deceased father and recently deceased brother had corneal opacification consistent with this disorder. The brother also had anemia and renal dysfunction; re-examination of his renal biopsy sample revealed multiple electron-dense deposits throughout the tissue. The living family members had normal LCAT activity and no evidence of corneal abnormality, hyperlipidemia, or renal dysfunction. Conclusion: This case report and review of family history suggests a pseudo-autosomal dominant genetic transmission of LCAT deficiency. Obligate carriers may have normal LCAT activity.