Harumi Nose

Three Novel Mutations in the X-Linked Juvenile Retinoschisis (XLRS1) Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome

We examined the XLRS1 gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three families (5 males and 1 female), and from 3 obligate carrier females. DNA was amplified for all six coding exons of the XLRS1 gene with established primer pairs, and was sequenced directly. Each family had a different mutation, Trp96stop, 522+1g→a, and Lys167Asn in the XLRS1 gene. Affected patients had a hemizygous mutant allele while the obligate carrier females were heterozygotes who had both wild-type and mutant-type alleles. A proband female, who was the offspring of asymptomatic and nonconsanguineous parents, was found to have a chromosomal karyotype (45, X) that was indicative of Turner’s syndrome. These three different mutations in the XLRS1 gene have not been previously reported. Further studies are needed to determine the relationship between these defects in the XLRS1 gene and the phenotypic expression of the disease.

A Novel Homozygous Gly107Arg Mutation in the RDH5 Gene in a Japanese Patient with Fundus albipunctatus with Sectorial Retinitis pigmentosa

We examined the RDH5 gene for mutations in two unrelated Japanese families with fundus albipunctatus. Each proband with fundus albipunctatus in two families (family A’s case was atypical with sectorial retinitis pigmentosa, while family B’s case was typical), and 2 obligate carriers underwent molecular analysis of their RDH5 gene. DNA was amplified for all coding exons of the RDH5 gene with established primer pairs, and sequenced directly. Each family had a different mutation in the RDH5 gene. Family A had a homozygous mutation (Gly107Arg) while family B had a compound heterozygous mutation (Arg280His and Leu310GluVal). The obligate carriers were heterozygous with the wild-type and mutant-type alleles. The homozygous Gly107Arg mutation in the RDH5 gene described in this paper has not previously been described, though compound heterozygous mutations (Gly107Arg and Leu310GluVal) in the RDH5 gene have previously been reported.

Ultrasound biomicroscopic findings of ciliary body Malignant melanoma

BackgroundMalignant melanoma of the uveal tract occurs rarely in Asian populations, and melanoma of the ciliary body is extremely rare. We treated an Asian man with uveal melanoma, relying on ultrasound biomicroscopy (UBM) findings for diagnosis and evaluation of the tumor.CaseA 65-year-old man with uveal melanoma was examined by slit-lamp microscopy, UBM, and magnetic resonance imaging (MRI), and histopathological examinations were performed as well.ObservationsSlit-lamp examination and MRI gave rough images of the tumor, but the exact origin and margin of the mass could not be determined. UBM clearly characterized the tumor as a medium echoic solid mass with acoustic hollowing attached to the ciliary body by a thin stem. Ciliary body detachment at the pars plicata was also found by UBM. Histopathological examination confirmed that the tumor was an epithelioid cell malignant melanoma of the ciliary body.ConclusionsUBM is useful in detecting, diagnosing, and evaluating a malignant melanoma of the ciliary body.

Surgery improves vision and cosmetic appearance of an adult patient with fibrous dysplasia of the frontal bone.

A 31-year-old woman with fibrous dysplasia (FD) of the left forehead was reported. Visual acuity impairment and diplopia were slowly progressive for 6 months associated with marked protrusion of her left forehead. Removal of left forehead lesion including the orbital ridge and total decompression of the optic canal and superior orbital fissure improved these visual symptoms dramatically. Reconstructive cranioplasty using artificial bone made by hydroxyapatite (Apaceram) was very satisfactory in cosmetic appearance. Surgical indication and neuroradiological findings of cranial FD are discussed as well as a review of the literatures.

A case of angle closure glaucoma caused by plateau iris and adie’s pupil

PURPOSE To describe a case of plateau iris associated with bilateral Adies pupil. DESIGN Interventional case report. METHODS A 54-year-old woman presented with pain in her right eye and headache. Intraocular pressure was 34 mm Hg in the right eye. Light reflex was defective bilaterally. RESULTS Ultrasound biomicroscopic imaging revealed normal anterior chamber depth and narrow angle. The ciliary processes were situated anteriorly. The eyes showed supersensitivity to 0.125% pilocarpine. The patient was diagnosed as having bilateral angle-closure glaucoma induced by Adies pupil and plateau iris. CONCLUSION Mild pupillary dilation caused by Adies pupil may have played a role in the development of angle closure in the plateau iris configuration of our patient.

Ultrasonographic Follow-up of Orbital Rhabdomyosarcoma in a Child

Ultrasound examination was performed in addition to MRI for the primary diagnosis of rhabdomyosarcoma in a young child. The echographic findings are described during a follow-up on chemotherapy and proton beam irradiation treatment.

A Semi-Automatic Refractometer with a TV Monitor Allowing One Position Measures of Ametropia

Electronic refractometers have been used to measure ametropia objectively in clinical practice for a decade. Focus detection is automated in many of them, but there has been developed a unique instrument which allows television monitored measurement. The Topcon Refractometer RM 200B shown in Fig. 1 is equipped with a TV monitor, on which the target patterns and the patient’s eye can be seen (Fig. 2). The target pattern consists of three pairs of bars (Fig. 3), two of which are used for the detection of focus in the two principal meridians respectively, and the other is used for the estimation of the axis of astigmatism. The usefulness of this particular design was investigated.