Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
OBJECTIVE
To characterize the ophthalmological features and clinical course of an autosomal dominant cone-rod dystrophy (CORD2) in a Japanese family with an Arg41Trp mutation in the CRX gene.


METHODS
Mutation screening by direct sequencing was performed on 42 patients with cone-rod dystrophy. The clinical features of the patients were characterized by the visual acuity and by the findings of slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.


RESULTS
An Arg41Trp mutation in the CRX gene was identified in three members from three generations of one family with cone-rod dystrophy. Fundus examination demonstrated that the retinal dystrophy worsened with increasing age.


CONCLUSIONS
A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. Clinical examination of patients of different ages demonstrated that there was a rapid progressive worsening of the disease with increasing age.
Itabashi
Toshitaka
T
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan. ita@oph.med.tohoku.ac.jp.
Wada
Yuko
Y
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
Sato
Hajime
H
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
Kunikata
Hiroshi
H
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
Kawamura
Miyuki
M
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
Tamai
Makoto
M
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574, Sendai , Japan.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells; D015534:Trans-Activators / Q000235:genetics*; D014364:Tryptophan; D014794:Visual Fields
D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein; D014364:Tryptophan; D001120:Arginine