title: Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.
abstract: OBJECTIVE
  To evaluate the ocular surface and topography findings of lamellar ichthyosis, and to investigate the correlation of these findings with mutations in TGM1, CYP4F22 and NIPAL4 genes.
  
  
  METHODS
  Twelve patients with lamellar ichthyosis were evaluated. Routine ophthalmic examination including Schirmer 1, tear break-up time and ocular surface staining score, topography, and genetic evaluation for coding exons of TGM1, NIPAL4 and CYP4F22 genes were performed.
  
  
  RESULTS
  The mean age of the patients was 19.75 ± 9.15 (range, 4-31) years. Mean Schirmer 1 scores of the right and the left eyes were similar (18.75 ± 3.10 mm). Mean tear break-up time of the right and the left eyes were 6.58 ± 2.74, 6.58 ± 3.02 seconds, respectively. Mean ocular surface staining grade was 0.36 ± 0.20 in the right, and 0.39 ± 0.17 in the left eyes. Keratoconus was detected in two patients. Two patients with bilateral cataract formation were found. Genetic sequencing revealed that one case had homozygous R326X mutation in the CYP4F22 gene, two cases had homozygous A176D mutation in the NIPAL4 gene, and three had homozygous M1T mutation in the same gene. Mutations were detected in patients with keratoconus and in a patient with bilateral cataract formation.
  
  
  CONCLUSIONS
  In lamellar ichthyosis, eyelid malformations together with decreased tear break-up time might cause sight-threatening complications. Genetic counseling for mutations might enable the physician to predict the possibility of upcoming ocular problems in lamellar ichthyosis patients.
authors.affiliation: a Departments of Ophthalmology and.
authors.forename: Melis
authors.initials: M
authors.lastname: Palamar
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Ilgen
authors.initials: I
authors.lastname: Ertam
authors.forename: Esra Arslan
authors.initials: EA
authors.lastname: Ates
authors.forename: Tugrul
authors.initials: T
authors.lastname: Dereli
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Ayse
authors.initials: A
authors.lastname: Yagci
mesh_terms: D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000473:pathology; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D015352:Dry Eye Syndromes / Q000175:diagnosis; D004483:Ectropion / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005838:Genotype; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics*; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics; D013666:Tears / Q000737:chemistry; D011503:Transglutaminases / Q000235:genetics; D014421:Turkey; D055815:Young Adult
chemical_list: C499859:NIPAL4 protein, human; D011956:Receptors, Cell Surface; D003577:Cytochrome P-450 Enzyme System; C559989:CYP4F22 protein, human; D011503:Transglutaminases; C105804:transglutaminase 1
keywords: Cataract; dry eye; ectropion; genetics; keratoconus; lamellar ichthyosis