Phenotype-genotype correlation in patients with Schnyder corneal dystrophy

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• Schnyder corneal dystrophy is a rare genetic disorder affecting the cornea.
• Mutations in the UBIAD1 gene are known to cause this condition.
• Understanding genotype-phenotype correlations is crucial for diagnosis and management.

Purpose of the Study:

• To investigate corneal morphology and UBIAD1 gene mutations in Polish patients with Schnyder corneal dystrophy.
• To correlate specific UBIAD1 mutations with observed corneal phenotypes.
• To contribute to the understanding of genetic variations in this population.

Main Methods:

• Study included 5 affected and 15 unaffected individuals from 3 families.
• Phenotypic analysis involved visual acuity, slit-lamp biomicroscopy, OCT (TD and SD), and confocal microscopy.
• Corneal buttons from 3 patients were examined using light microscopy after penetrating keratoplasty.

Main Results:

• A novel I245N mutation in UBIAD1 was identified in one proband, presenting without central corneal opacities.
• The N102S mutation was found in other patients.
• In vivo imaging confirmed crystalline corneal deposits in all affected individuals.
• Histopathology showed lipid-like empty spaces within corneal lamellae.

Conclusions:

• The N102S mutation may be a hotspot in the Polish population, similar to other groups.
• Optical coherence tomography scans revealed a distinct pattern of corneal crystals.
• This study expands the spectrum of UBIAD1 mutations associated with Schnyder corneal dystrophy.