title: Ophthalmological aspects of Pierson syndrome.
abstract: OBJECTIVE
  To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition.
  
  
  METHODS
  Retrospective, observational case series.
  
  
  METHODS
  A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature.
  
  
  RESULTS
  The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability.
  
  
  CONCLUSIONS
  Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.
authors.affiliation: Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
authors.forename: Cecilie
authors.initials: C
authors.lastname: Bredrup
authors.forename: Verena
authors.initials: V
authors.lastname: Matejas
authors.forename: Margaret
authors.initials: M
authors.lastname: Barrow
authors.forename: Kvĕta
authors.initials: K
authors.lastname: Bláhová
authors.forename: Detlef
authors.initials: D
authors.lastname: Bockenhauer
authors.forename: Darren J
authors.initials: DJ
authors.lastname: Fowler
authors.forename: Richard M
authors.initials: RM
authors.lastname: Gregson
authors.forename: Iwona
authors.initials: I
authors.lastname: Maruniak-Chudek
authors.forename: Ana
authors.initials: A
authors.lastname: Medeira
authors.forename: Erica Laima
authors.initials: EL
authors.lastname: Mendonça
authors.forename: Mikhail
authors.initials: M
authors.lastname: Kagan
authors.forename: Jens
authors.initials: J
authors.lastname: Koenig
authors.forename: Hermann
authors.initials: H
authors.lastname: Krastel
authors.forename: Hester Y
authors.initials: HY
authors.lastname: Kroes
authors.forename: Anand
authors.initials: A
authors.lastname: Saggar
authors.forename: Taylor
authors.initials: T
authors.lastname: Sawyer
authors.forename: Michael
authors.initials: M
authors.lastname: Schittkowski
authors.forename: Janusz
authors.initials: J
authors.lastname: Swietliński
authors.forename: Dorothy
authors.initials: D
authors.lastname: Thompson
authors.forename: Rene G
authors.initials: RG
authors.lastname: VanDeVoorde
authors.forename: Dienke
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Woodruff
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Zurowska
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Isabelle
authors.initials: I
authors.lastname: Russell-Eggitt
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007797:Laminin / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009404:Nephrotic Syndrome / Q000151:congenital*; D010641:Phenotype; D011681:Pupil Disorders / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D013577:Syndrome
chemical_list: D007797:Laminin; C058783:laminin beta2