[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].

OBJECTIVE: To screen the mutation in the RPGR gene in a large Chinese family with X-linked recessive retinitis pigmentosa (RP) and to describe the phenotype in affected males and female carriers. METHODS: Ophthalmic examinations were performed in 77 family members of a RP pedigree to identify affected individuals. Polymerase chain reaction (PCR) and direct sequencing were used for screening of mutations in RPGR gene exon ORF15. RESULTS: Mutation screening demonstrated a novel mutation, g.ORF15 + 577_578delAG, which caused an open reading frameshift and resulted in premature truncation of the RPGR protein. This mutation was detected in 8 affected male individuals and 14 obligate female carriers in this family and was found to segregate with the phenotype in this family. This mutation led to a severe RP phenotype in male affected individuals with some variability in the age of onset of night blindness and loss of visual acuity, but was recessive in female carriers without a RP phenotype. However the most striking phenotypic feature in female carriers in this pedigree was moderate to high myopia with refractive error ranging from -5.00 D to -22.00 D in 14 female carriers. CONCLUSIONS: This novel mutation in RPGR ORF15 causes serious RP phenotype in males and no RP phenotype in female carriers. Moderate to high myopia was a particular feature for female carriers in this pedigree. Our finding expands the spectrum of RPGR mutations causing RP and phenotypic spectrum of the disease in Chinese family, which is useful for further genetic consultation and genetic diagnosis.

[The experimental study of octreotide suppressing retinal neovascularization].

OBJECTIVE: To study the effect and therapeutically role of octreotide on retinal neovascularization. METHOD: (1) Forty one-week-old mice were randomly divided into five groups, in which four groups were exposed to 75% oxygen to establish a model of retinal neovascularization, the other group were fed in the normal environment. Mice in control group did not receive any treatment. The two experimental groups were given acetate octreotide by subcutaneous injection at the dose of 20 microg.kg(-1) and 50 microg.kg(-1) respectively twice a day for five days while the control group was given sterile PBS subcutaneously. (2) The mice were sacrificed on 17-day, the eyes were enucleated for histological examination using light and electron microscopy. (3) The effect of acetate octreotide on retinal vessels formation was assessed by counting the number of endothelial cells of new vessels extending from retina to vitreous of 4 microm sagittal retinal cross sections under the light microscope. The expression of SSTR2 in the mice retina was determined by situ hybridization. The change of retinal ultrastructure was observed under the electron microscopy. RESULTS: (1) HE staining: The numbers of endothelial cells of new vessels extending form retina to vitreous in the experimental groups were much less than the control and hyperoxia group (P < 0.01). (2) Situ hybridization showed that SSTR2 expressed in the nurtroganglion layer, endothelial cells and inner nuclear layer in the normal, control and hyperoxia group while the octreotide treated retina showed only light positive staining of SSTR2 in the nurtroganglion layer. (3) Electron microscopy showed hypoxia caused the damage of photoreceptor cells but the damage abated considerably after the mice were treated by the octreotide. CONCLUSION: Subcutaneous injection of octreotide may suppress the retinal neovascularization in the mice oxygen model and provide some of protection from the damage of retinal ultrastructure.

[Therapeutic effect and pathology changing of eyelid xanthelasma by Bleomycin A5].

OBJECTIVE: To investigate the effects of Bleomycin A5 on the pathology and ultrastructure of eyelid xanthelasmas. METHODS: Twenty-five randomly selected outpatients from our hospital received 0.2 ml of a 0.4% Bleomycin A5 solution. The drug was directly injected into the tumor every 10 days. In other 5 cases (double up-eyelids xanthelasma), one eye received 0.2 ml of 0.4% Bleomycin A5 injection once and another eye was used as controlling. After one month, operations were performed to remove double up-eyelids xanthelasma tissues, one half of the tissues were investigated by histochemistry; the other half was cut into 1.0 mm x 1.0 mm x 1.5 mm pieces and investigated by electron microscopy. RESULTS: The clinical investigation demonstrated that 25 cases of the Bleomycin treated tumors disappeared completely and the skin color recovered. The eyelids kept their normal morphology and function. Histopathologic investigation of the Bleomycin treated groups showed fibroblasts hyperplasia and sparse foam cells in shallow derma. In the control group, there are large foam cells in shallow layer of derma. The ultrastructure of the treated specimens showed fat droplets decrease in foam cells in contrary to the control group. CONCLUSIONS: Bleomycin A5 can rapidly inhibit the proliferation of foam cells and induce xanthelasma disappearance. Bleomycin A5 is an easy and safe method to treat eyelid xanthelasma and can be widely used in clinical work.