Ocular surface analysis in patients diagnosed with X-linked ichthyosis

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Background:

• X-linked ichthyosis is a genetic disorder affecting the skin.
• Ocular manifestations in X-linked ichthyosis are not fully understood.
• Corneal involvement can significantly impact vision and quality of life.

Purpose of the Study:

• To characterize the ocular surface and corneal findings in patients with X-linked ichthyosis.
• To evaluate the utility of advanced imaging techniques, particularly confocal microscopy, in assessing corneal pathology.
• To identify novel corneal features associated with X-linked ichthyosis.

Main Methods:

• A cohort of seven patients with X-linked ichthyosis underwent comprehensive ophthalmic examinations.
• Diagnostic tools included Schirmer test, biomicroscopy, tonometry, specular microscopy, optical coherence tomography, Pentacam®, ocular surface analyzer, and confocal microscopy.
• Detailed analysis of Meibomian gland function, tear film stability, and corneal microstructure was performed.

Main Results:

• The most common findings were Meibomian gland dysfunction (83.3%) and stromal corneal opacities (33%).
• Reduced tear break-up time was observed in 25% of eyes.
• Confocal microscopy revealed activated keratocytes with hyper-reflective particles in the anterior and posterior stroma.

Conclusions:

• X-linked ichthyosis is associated with significant ocular surface and corneal abnormalities.
• Confocal microscopy provides valuable insights into the corneal microstructural changes in X-linked ichthyosis.
• Further research utilizing confocal microscopy may uncover new characteristics and improve understanding of this condition.