A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
OBJECTIVE
To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).


METHODS
Case Report.


RESULTS
We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).


CONCLUSIONS
This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.
Barry
Gerard P
GP
Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Ny
Betina Mucha-Le
BM
Zackai
Elaine H
EH
Grunwald
Lili
L
Forbes
Brian J
BJ
D000015:Abnormalities, Multiple / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D003315:Cornea / Q000002:abnormalities; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007223:Infant; D016850:Limbus Corneae / Q000002:abnormalities; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2