Corneal Dystrophy

Gene: PIKFYVE

Green List (high evidence)

Fleck corneal dystrophy (CFD) is characterised by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, the epithelium, Bowman layer, and Descemet membrane are normal. Affected individuals are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans.

More than 10 unrelated families reported.

Created: 6 Jan 2021, 12:01 a.m. | Last Modified: 6 Jan 2021, 12:01 a.m.

Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal fleck dystrophy, MIM# 121850

Publications

• 15902656
• 23288988
• 26396486