Study clarifies genetic basis of rare form of corneal dystrophy

PARIS — A study carried out in Spain confirmed the genetic basis and identified the specific gene mutation causative of punctiform and polychromatic pre-Descemet corneal dystrophy. The researchers also hypothesized the Spanish origin of this rare form of corneal dystrophy.
“After three other independent families presented to our clinic with this dystrophy, we set up a study to identify possible ophthalmic associations and to confirm and investigate the genetic basis of PPPDCD,” Jorge Alió del Barrio, MD, PhD, said at EuCornea 2019.
Punctiform and polychromatic

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