Fleck Corneal Dystrophy: A Rare Benign Corneal Condition

Fleck Corneal Dystrophy: A Rare Benign Corneal Condition

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Focused Health Topics
Contributed byAlexander Enabnit+3 moreOct 16, 2023

Introduction:

Fleck corneal dystrophy, also known as benign familial fleck dystrophy, is a rare and usually non-progressive corneal condition that primarily affects the corneal epithelium. This article aims to provide a comprehensive overview of fleck corneal dystrophy, including its clinical features, etiology, diagnosis, and management.

Clinical Features:

Fleck corneal dystrophy typically manifests during childhood or adolescence, although some cases may present in adulthood. The condition is bilateral and symmetric, and the most characteristic feature is the presence of numerous small, well-defined yellowish-white flecks or spots throughout the corneal epithelium. These flecks are usually scattered across the entire cornea but spare the central cornea, leading to preserved visual acuity in most cases.

Etiology:

Fleck corneal dystrophy is an autosomal dominant disorder caused by mutations in the PRPH2 gene, which encodes for the peripherin-2 protein. The exact mechanism by which these mutations lead to the formation of corneal flecks is not fully understood. However, it is believed that abnormal lipid or protein deposits within the corneal epithelium are responsible for the clinical appearance.

Diagnosis:

Diagnosing fleck corneal dystrophy typically relies on clinical examination and a thorough patient history. The characteristic appearance of the corneal flecks, along with the presence of a positive family history, helps differentiate this dystrophy from other corneal disorders.

In some cases, a corneal confocal microscopy or anterior segment optical coherence tomography (OCT) may aid in visualizing the flecks and assessing their depth within the corneal layers.

Management:

Fleck corneal dystrophy is considered benign and does not usually require treatment. As the condition does not affect vision significantly, patients may not experience any symptoms and may not require intervention.

However, if patients report ocular discomfort or dryness, lubricating eye drops can provide relief. Regular follow-up examinations are recommended to monitor for any changes in corneal appearance or symptoms.

Differential Diagnosis:

Fleck corneal dystrophy must be differentiated from other corneal dystrophies or conditions that may present with similar clinical features. These include:

  • Lattice corneal dystrophy: Characterized by lattice-like amyloid deposits in the cornea.
  • Granular corneal dystrophy: Presents with white, granular opacities in the corneal stroma.
  • Map-dot-fingerprint corneal dystrophy: Exhibits a variety of corneal changes, including map-like, dot-like, and fingerprint-like patterns.
  • Corneal arcus: Common in older individuals and appears as a white or grayish ring around the cornea.

Conclusion:

Fleck corneal dystrophy is a rare, non-progressive corneal condition characterized by small yellowish-white flecks in the corneal epithelium. Although it is benign and does not typically affect vision, regular follow-up examinations are important to monitor for any changes or symptoms. Proper diagnosis and differentiation from other corneal conditions are essential for appropriate management.

Hashtags: #FleckCornealDystrophy #BenignFamilialFleckDystrophy #CornealDystrophies #CornealFlecks #VisualAcuity #PRPH2Gene #CornealConfocalMicroscopy #AnteriorSegmentOCT #OcularHealth #CornealDisorders #CornealAppearance


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On the Article

Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team
Alexander Enabnit picture
Author

Alexander Enabnit

Senior Editorial Staff
Alexandra Warren picture
Author

Alexandra Warren

Senior Editorial Staff
Nadia Debska picture
Author

Nadia Debska

Editorial Staff

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