Search

Purpose A 38‐year‐old Egyptian man was referred to our department due to bilateral loss of vision over a six‐year period.Slit lamp examination revealed extensive bilateral corneal opacitiesBlood analysis revealed lipid metabolism abnormalities with a lack of plasma alpha‐lecithin:cholesterol acyltransferase (LCAT) (high‐density) activity Methods We used PCR to amplify, to sequence and to determine the genotype of the LCAT gene. Direct sequencing of the six exons of the gene (figure 2) revealed a new homozygous mutation in exon 1 confirming the diagnosis of Fish Eye Disease (FED). This new homozygous mutation caused a C‐to‐T transition, resulting in a substitution of a leucine by a proline at position 34 of the protein. Results We performed a penetrating keratoplasty on right eye in december 2004. Despite a clear graft with normal anterior segment and normal fundoscopy, the patient did not recover significant visual acuity from the graft. His visual acuity was 20/100 on right eye. Visual Evoked potential and neuroimaging was normal, but electroretinography revealed a bilateral maculopathy. Conclusion Similarly to what occurs in cornea ,retinal deposits could explain the macular involvement we have discovered in Fish eye disease. Full‐thickness corneal transplantation should be performed in cases of severe corneal opacification with impaired vision, but success of keratoplasty could be limited by visual impairement due to retinal degeneration. The indication for perforating keratoplasty has to be thought very carefully in these multimorbid patients. [ABSTRACT FROM AUTHOR]