Ultrasound biomicroscopic findings of ciliary body malignant melanoma.

BACKGROUND: Malignant 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. CASE. A 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. OBSERVATIONS: Slit-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. CONCLUSIONS: UBM is useful in detecting, diagnosing, and evaluating a malignant melanoma of the ciliary body.

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.

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.

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 case of angle closure glaucoma caused by plateau iris and adie's pupil.

PURPOSE: To describe a case of plateau iris associated with bilateral Adie's 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 Adie's pupil and plateau iris. CONCLUSION: Mild pupillary dilation caused by Adie's pupil may have played a role in the development of angle closure in the plateau iris configuration of our patient.

Thallium-201 SPECT of orbital tumors.

Thallium-201 ((201)Tl) SPECT is utilized as a diagnostic imaging tool for a variety of tumors, such as lung cancer, brain tumors, etc., but there is hardly any literature on this type of imaging in orbital lesions. We examined 22 patients with orbital lesions and unilateral exophthalmos to evaluate the usefulness of (201)Tl-SPECT in the diagnosis of orbital tumors. All 22 cases had a confirmed histopathological diagnosis. The patients underwent (201)Tl-SPECT imaging before therapy. Early images were obtained 15 minutes after the intravenous administration of 74 MBq (201)Tl-chloride, and delayed images were taken 3 hours later. The intensities of (201)Tl accumulation in the early and delayed images were measured. Three out of four patients with cavernous hemangiomas, one of two with neurinomas, all three with pleomorphic adenomas, one with lipoma, and one with dermoid cyst had negative scans, but the other 13 patients all displayed ( 201)Tl accumulation in the area of the tumor. Four malignant lymphomas, two reactive lymphoid hyperplasias, one meningioma, one neurinoma, one adenoid cystic carcinoma and one plasmacytoma showed increased uptake, especially in the early phase. The most intense uptake was seen in the metastic renal cell carcinoma, in both early and delayed phases. We conclude that (201)Tl-SPECT can be useful in predicting the histopathological diagnosis of orbital tumors, especially by comparing the accumulation rate in the early and delayed phases.