Fleck corneal dystrophy

Fleck corneal dystrophy is a rare, non-progressive eye disorder characterized by small, white or yellowish flecks scattered throughout the cornea. First described in the early 20th century, this condition is typically asymptomatic and is often discovered incidentally during a routine eye examination. The flecks in the cornea are deposits of lipids and other substances, and their distribution and appearance can vary greatly among affected individuals. Despite its visibility, Fleck corneal dystrophy usually does not affect vision or require treatment.

Etiology and Genetics

Fleck corneal dystrophy is a genetic disorder inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. It has been linked to mutations in the PIKFYVE gene, which plays a role in cellular processes such as membrane trafficking and phosphoinositide metabolism. These genetic alterations lead to the abnormal accumulation of material in the corneal stroma, epithelium, and endothelium, manifesting as the characteristic flecks.

Clinical Presentation

Individuals with Fleck corneal dystrophy typically present with numerous small, discrete opacities scattered throughout all layers of the cornea. These opacities are usually bilateral and symmetric. Most patients remain asymptomatic, with no significant impact on visual acuity. However, the presence of flecks can sometimes be detected during childhood or adolescence, although the condition is present from birth.

Diagnosis

Diagnosis of Fleck corneal dystrophy is primarily based on clinical examination, particularly the use of slit-lamp biomicroscopy, which reveals the distinctive fleck-like opacities in the cornea. Genetic testing can confirm the diagnosis by identifying mutations in the PIKFYVE gene, but it is not routinely performed due to the condition's benign nature.

Management and Prognosis

As Fleck corneal dystrophy is typically asymptomatic and does not progress, treatment is usually unnecessary. Patients are advised to undergo regular eye examinations to monitor for any potential changes in their condition, although significant alterations are rare. The prognosis for individuals with Fleck corneal dystrophy is excellent, with most maintaining normal visual function throughout their lives.

Epidemiology

Fleck corneal dystrophy is a rare condition, with its exact prevalence unknown. It affects males and females equally and has been reported in various ethnic groups worldwide. Due to its asymptomatic nature, the disorder may be underdiagnosed.

See Also

• Corneal dystrophy
• Genetic disorders
• Eye examination
• Slit lamp