This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (8)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Genetics  • Genetic Disorders  • Macular Degeneration  • Alert me on articles by topic

Yuko Wada, MD; Toshiaki Abe, MD; Toshitaka Itabashi, MD; Hajime Sato, MD; Miyuki Kawamura, MD; Makoto Tamai, MD

Arch Ophthalmol. 2003;121:1613-1620.

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.

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

Setting  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.

Clinical Relevance  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.

From the Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. The authors have no relevant financial interest in this article.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Allelic Copy Number Variation in FSCN2 Detected Using Allele-Specific Genotyping and Multiplex Real-Time PCRs
Jin et al.
IOVS 2008;49:3799-3805.
ABSTRACT | FULL TEXT  

Retina-Specific Protein Fascin 2 Is an Actin Cross-linker Associated with Actin Bundles in Photoreceptor Inner Segments and Calycal Processes
Lin-Jones and Burnside
IOVS 2007;48:1380-1388.
ABSTRACT | FULL TEXT  

The 208delG Mutation in FSCN2 Does Not Associate with Retinal Degeneration in Chinese Individuals
Zhang et al.
IOVS 2007;48:530-533.
ABSTRACT | FULL TEXT  

CTRP5 Is a Membrane-Associated and Secretory Protein in the RPE and Ciliary Body and the S163R Mutation of CTRP5 Impairs Its Secretion
Mandal et al.
IOVS 2006;47:5505-5513.
ABSTRACT | FULL TEXT  

Phenotypes of Drosophila Brain Neurons in Primary Culture Reveal a Role for Fascin in Neurite Shape and Trajectory.
Kraft et al.
J. Neurosci. 2006;26:8734-8747.
ABSTRACT | FULL TEXT  

Targeted Disruption of FSCN2 Gene Induces Retinopathy in Mice
Yokokura et al.
IOVS 2005;46:2905-2915.
ABSTRACT | FULL TEXT