Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.
OBJECTIVE
To report the clinical features of a patient with familial exudative vitreoretinopathy (FEVR) associated with homozygous R417Q mutation in the frizzled-4 gene (FZD4).


METHODS
Clinical examination and mutation analysis by direct sequencing.


RESULTS
A five-month-old girl was found to have leukocoria associated with retrolental fibroplasia in the right eye and a severe falciform retinal fold in the left eye. Mutational analysis revealed a homozygous R417Q mutation in the FZD4 gene. Her parents who carried the same mutation heterozygously exhibited milder ocular phenotype.


CONCLUSIONS
Homozygous state for the FZD4 gene is possibly involved in the severity of the FEVR phenotype.
Kondo
Hiroyuki
H
Department of Ophthalmology, Fukuoka University School of Medicine, Nanakuma, Jonanku, Fukuoka, Japan. hkondo@fukuoka-u.ac.up
Qin
Minghui
M
Tahira
Tomoko
T
Uchio
Eiichi
E
Hayashi
Kenshi
K
D005260:Female; D051157:Frizzled Receptors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics* / Q000503:physiopathology; D013492:Suppuration; D014822:Vitreous Body / Q000473:pathology*
C402930:FZD4 protein, human; D051157:Frizzled Receptors; D043562:Receptors, G-Protein-Coupled