Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK.

AIM

To reveal the importance of gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.

METHODS

A 37-year-old male (proband) underwent bilateral laser-assisted keratomileusis (LASIK) in 2002, with right vision decreased significantly in 2006. The proband and other 32 members of the family underwent a detailed ophthalmic examination, including vision acuity, intraocular pressure, slit-lamp photograph, fundus examination, optical coherence tomography (OCT) of cornea, and confocal microscope (IVCM) and peripheral blood was used for genomic DNA extraction. Seventeen gene exons were analyzed polymerase chain reaction amplification and direct sequencing.

RESULTS

Slit-lamp, IVCM, and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye. Sanger sequencing showed that there was a 371G>A mutation (CGC>CAC) in exon 4, which indicated that he harbored a heterozygote R124H mutation, identifying the diagnosis of Avellino corneal dystrophy (ACD). Among the other 32 family members, 6 of them harbored the identical mutation to that in the proband.

CONCLUSION

ACD will worsen and recur after LASIK. Preoperative gene-screening for mutations is important in diagnosing ACD.