title: Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.
abstract: OBJECTIVE
  The aim of this study was to analyze the corneal morphology features and define mutations in the UbiA prenyltransferase domain-containing 1 (UBIAD1) gene in patients with Schnyder corneal dystrophy from a Polish population.
  
  
  METHODS
  Five 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.
  
  
  RESULTS
  A novel mutation I245N of the UBIAD1 gene was revealed in 1 proband and associated with the phenotype without central corneal opacities. The analysis of the other patients showed the N102S 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.
  
  
  CONCLUSIONS
  N102S 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.
authors.affiliation: *II Ophthalmology Clinic, Silesian Medical University, Katowice, Poland; †Department of Ophthalmology, Saint Barbara Hospital, Sosnowiec, Poland; and Departments of ‡Experimental Medical-Surgical Sciences, Ocular Surface Diseases Unit; and §Biomedical Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.
authors.forename: Anna K
authors.initials: AK
authors.lastname: Nowinska
authors.forename: Edward
authors.initials: E
authors.lastname: Wylegala
authors.forename: Sławomir
authors.initials: S
authors.lastname: Teper
authors.forename: Anita
authors.initials: A
authors.lastname: Lyssek-Boron
authors.forename: Pasquale
authors.initials: P
authors.lastname: Aragona
authors.forename: Anna M
authors.initials: AM
authors.lastname: Roszkowska
authors.forename: Antonio
authors.initials: A
authors.lastname: Micali
authors.forename: Antonina
authors.initials: A
authors.lastname: Pisani
authors.forename: Domenico
authors.initials: D
authors.lastname: Puzzolo
mesh_terms: D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D004252:DNA Mutational Analysis; D004122:Dimethylallyltranstransferase / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D004122:Dimethylallyltranstransferase; C425464:UBIAD1 protein, human