Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.
OBJECTIVE
To assess the clinical and genetic characteristics of 2 Japanese families with autosomal dominant macular degeneration (ADMD) associated with a 208delG mutation in the retinal fascin (FSCN2) gene.


METHODS
Case reports with clinical findings and results of fluorescein angiography, electroretinography, kinetic visual field testing, and DNA analysis.


METHODS
University medical center.


RESULTS
The 208delG mutation in the FSCN2 gene was identified in 14 members of 4 Japanese families with autosomal dominant retinitis pigmentosa and in 5 members of 2 Japanese families with ADMD. The characteristic features associated with this mutation led to 2 different phenotypes, autosomal dominant retinitis pigmentosa and ADMD.


CONCLUSIONS
The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD in the Japanese population. This mutation is relatively common in Japanese patients with autosomal dominant retinal degeneration and showed clinical variability.


CONCLUSIONS
Autosomal dominant retinitis pigmentosa and ADMD can be caused by the same 208delG mutation. We suggest that mutations in the FSCN2 gene can lead to a spectrum of phenotypes.
Wada
Yuko
Y
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. YUKOW@oph.med.tohoku.ac.jp
Abe
Toshiaki
T
Itabashi
Toshitaka
T
Sato
Hajime
H
Kawamura
Miyuki
M
Tamai
Makoto
M
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D017353:Gene Deletion; D005799:Genes, Dominant; D006147:Guanine; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014794:Visual Fields
D002352:Carrier Proteins; D008840:Microfilament Proteins; C020324:fascin; D006147:Guanine