Corneal dystrophies are diagnosed through a combination of history, slit‑lamp examination, and specialised imaging. Family history and the pattern of corneal deposits or opacities help distinguish different dystrophies.
Clinical Evaluation
Slit‑lamp biomicroscopy is used to examine each corneal layer in detail and look for characteristic changes in the epithelium, stroma, or endothelium.
- Symptoms such as recurrent erosions, glare, or blurred vision are documented.
- Corneal sensitivity, thickness, and topography may be measured to assess structure and curvature.
- Photographs provide a baseline for monitoring progression over time.
- Other causes of corneal opacity such as infection, trauma, or degeneration are ruled out.
Special Tests
Additional investigations refine the diagnosis and guide management and counselling.
- Anterior segment OCT or confocal microscopy can show the depth and pattern of deposits.
- Specular microscopy assesses endothelial cell health in conditions like Fuchs dystrophy.
- Genetic testing is increasingly used to confirm specific dystrophies and identify affected relatives.
- Results help determine prognosis, risk to family members, and suitability for treatments such as phototherapeutic keratectomy or corneal transplantation.
