Corneal confocal microscopy in Darier disease.

Area of Science:

• Ophthalmology
• Dermatology
• Genetics

Background:

• Darier disease is a rare autosomal dominant genodermatosis.
• Ocular manifestations are not commonly reported in Darier disease.
• Understanding ocular findings aids in comprehensive patient management.

Observation:

• A case report detailing ocular findings in a patient with Darier disease.
• Utilized in vivo confocal microscopy for high-resolution imaging of corneal structures.
• Retrospective, noninterventional study design.

Findings:

• Confocal microscopy identified intercellular material deposits in the basal corneal epithelium.
• These deposits, 3-5 microm thick, exhibited reflectance similar to corneal nerves.
• Material collections separated basal epithelial cells, conforming to cell borders.

Implications:

• Corneal findings correlate with known histological abnormalities in Darier disease.
• Suggests abnormal keratocyte-to-keratocyte adhesions contribute to ocular findings.
• Confocal microscopy may be a valuable tool for diagnosing and monitoring Darier disease progression.