Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.

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The aim of this study was to analyze the corneal morphology features and define mutations in the UbiA prenyltransferase domain-containing 1 (UBIAD 1 ) gene in patients with Schnyder corneal dystrophy from a Polish population .F ive affected and 15 unaffected members originating from 3 families with Schnyder corneal dystrophy were included in the study . Phenotype analysis consisted of visual acuity , slit-lamp biomicroscopy with photography , time domain optical coherence tomography , spectral domain optical coherence tomography , and confocal microscopy . Three patients underwent a penetrating keratoplasty . Corneal buttons obtained from the penetrating keratoplasty were processed for light microscopy .A novel mutation I 245 N of the UBIAD 1 gene was revealed in 1 proband and associated with the phenotype without central corneal opacities . The analysis of the other patients showed the N 102 S mutation . In vivo corneal morphology analysis using optical coherence tomography and confocal microscopy confirmed the presence of multiple crystalline corneal deposits in all affected corneas . The histological examination revealed multiple empty widenings of the corneal lamellae that could represent lipids removed from the specimen .N 102 S may also be a mutation hotspot in the Polish population , as in other previously reported populations . Corneal crystals formed a characteristic pattern on optical coherence tomography scans .