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 (37)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Ophthalmological Disorders, Other  • Alert me on articles by topic

Mitsuru Nakazawa, MD; Yuko Wada, MD; Makoto Tamai, MD

Arch Ophthalmol. 1998;116:498-501.

Objective  To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene.

Design  Results of molecular genetic screening and case reports with DNA analysis and clinical features.

Setting  University medical center.

Patients  One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa.

Methods  DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography.

Results  We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex.

Conclusions  Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.

From the Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Genetic Modifiers of Retinal Degeneration in the rd3 Mouse
Danciger et al.
IOVS 2008;49:2863-2869.
ABSTRACT | FULL TEXT  

Light and inherited retinal degeneration
Paskowitz et al.
Br. J. Ophthalmol. 2006;90:1060-1066.
ABSTRACT | FULL TEXT  

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

A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers
Kondo et al.
IOVS 2004;45:4433-4439.
ABSTRACT | FULL TEXT  

Autosomal Dominant Macular Degeneration Associated With 208delG Mutation in the FSCN2 Gene
Wada et al.
Arch Ophthalmol 2003;121:1613-1620.
ABSTRACT | FULL TEXT  

Retinal and Optic Disc Atrophy Associated With a CACNA1F Mutation in a Japanese Family
Nakamura et al.
Arch Ophthalmol 2003;121:1028-1033.
ABSTRACT | FULL TEXT  

The role of {beta}-arrestins in the termination and transduction of G-protein-coupled receptor signals
Luttrell and Lefkowitz
J. Cell Sci. 2002;115:455-465.
ABSTRACT | FULL TEXT  

CORD9 a New Locus for arCRD: Mapping to 8p11, Estimation of Frequency, Evaluation of a Candidate Gene
Danciger et al.
IOVS 2001;42:2458-2465.
ABSTRACT | FULL TEXT  

The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment
ARDEN
Br. J. Ophthalmol. 2001;85:366-370.
FULL TEXT  

Cloning and Functional Characterization of Salamander Rod and Cone Arrestins
Smith et al.
IOVS 2000;41:2445-2455.
ABSTRACT | FULL TEXT  

Increased Susceptibility to Light Damage in an Arrestin Knockout Mouse Model of Oguchi Disease (Stationary Night Blindness)
Chen et al.
IOVS 1999;40:2978-2982.
ABSTRACT | FULL TEXT  

Retinitis pigmentosa with visual fluctuations and arrestin gene mutation
ISASHIKI et al.
Br. J. Ophthalmol. 1999;83:1194d-1194.
FULL TEXT