It is caused by mutations in PIKFYVE gene.

Small opacities, some of which resemble "flecks", are scattered in the stroma of the patients.

The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients.

In a single case report, a corneal transplantation was performed for concurrent keratoconus, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.

[1] This genetic disorder article is a stub.