Mutation Screening In The Lcat Gene Causing Fish Eye Disease

Abstract

Purpose: : Fish eye disease is a rare hereditary disease in which Lecithin Cholesterol Acetyl Transferase (LCAT) activity toward HDL is absent but LCAT toward LDL is present.Marked corneal clouding is the most prominent finding. The eyes are said to resemble those of boiled fish. The disease is caused by mutations in the LCAT gene. The origin of corneal opacification in FED remains at present speculative: both impairment of reserve cholesterol transport and deposition of abnormal lipoproteins may cause this anomaly. We present clinical, genetic and corneal histology of patient with new mutation in the LCAT gene.

Methods: : Genomic DNAs were extracted from peripheral blood leucocytes. Sequence alterations in all the known coding sequences of LCAT gene were investigated by PCR and direct DNA sequencing. Corneal buttons were obtained by perforating keratoplasty realised during surgical treatment.

Results: : A new homozygous missense mutation in the first exon of the LCAT gene resulting in a substitution of leucine for proline at position 34 of the protein was found in affected patient . Corneal button histology revealed lipidic inclusions in the layers of the cornea.

Conclusions: : We have identified a novel and unique mutation in the LCAT gene and describe clinical and histologic characteristics.

Keywords: cornea: basic science • genetics • gene screening