Ophthalmological aspects of Pierson syndrome.
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.
Bredrup
Cecilie
C
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
Matejas
Verena
V
Barrow
Margaret
M
Bláhová
Kvĕta
K
Bockenhauer
Detlef
D
Fowler
Darren J
DJ
Gregson
Richard M
RM
Maruniak-Chudek
Iwona
I
Medeira
Ana
A
Mendonça
Erica Laima
EL
Kagan
Mikhail
M
Koenig
Jens
J
Krastel
Hermann
H
Kroes
Hester Y
HY
Saggar
Anand
A
Sawyer
Taylor
T
Schittkowski
Michael
M
Swietliński
Janusz
J
Thompson
Dorothy
D
VanDeVoorde
Rene G
RG
Wittebol-Post
Dienke
D
Woodruff
Geoffrey
G
Zurowska
Aleksandra
A
Hennekam
Raoul C
RC
Zenker
Martin
M
Russell-Eggitt
Isabelle
I
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
D007797:Laminin; C058783:laminin beta2