corneal fleck dystrophy

Pathology

• disorder of the cornea

Genetics

• autosomal dominant
• associated with defects in PIP5K3 gene

Clinical manifestations

• numerous small white flecks scattered in all levels of the corneal stroma
• patients are typically asymptomatic & have normal vision
• may occasionally cause mild photophobia

More general terms

• genetic disease of the eye
• corneal disease (keratopathy)

Database

• OMIM: https://mirror.omim.org/entry/121850