Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene
H Kondo, M Qin, T Tahira, E Uchio… - Ophthalmic Genetics, 2007 - Taylor & Francis
H Kondo, M Qin, T Tahira, E Uchio, K Hayashi
Ophthalmic Genetics, 2007•Taylor & FrancisPurpose: 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 …
(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 …
Purpose
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.
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