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Study associates gelatinous corneal dystrophy with gene mutation

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Gelatinous drop-like corneal dystrophy was associated with mutations in the M1S1 gene in a retrospective study of Japanese patients, although several clinical manifestations of the keratopathy were seen in the study.

Takeshi Ide, MD, and colleagues at Osaka University Medical School reviewed observational data on 18 eyes of 10 patients with gelatinous drop-like corneal dystrophy (GDLD) with no prior surgery.

“As most clinicians have no criteria for diagnosing GDLD, many cases are likely to be overlooked or be mistaken for other conditions,” the authors said. “We believe that our present classification will be useful for the diagnosis of GDLD.”

Seven eyes of four patients had keratopathy-type manifestations of GDLD. Five eyes of three patients had a stromal-type opacity, four eyes of two patients had kumquat-like opacity and two eyes of two patients had typical mulberry-type manifestations, according to the study authors.

All patients were found to have mutations in the M1S1 gene, the authors noted.

The study is published in the American Journal of Ophthalmology.