OBJECTIVE：Observing the clinical and pathological features of Coats disease. METHODS:Reviewing the clinical data and pathologic slides duly confirmed by pathology of 19 cases of Coats disease,which belonging to our college's Laboratory of Ophthalmologic Pathology from 1959 to 1994. RESULTS: 14 males,5 females,aged 1-18 years. More boys were affected than girls in the age group under 10 and that difference between both sexes became gradually less as they grew older. The main pathologic changes were the vascular dilatation and congestion of the outer layer of the retina,the uneven thickness of the vascular walls and the proliferation of the connective tissue. Retinal protuberance was seen in most of the advanced cases.with bleeding and vascular changes on its surfaces. The main pathologic changes were the detachment of retina and the appearance of many foam cells and crystals of cholesterol in the subretnal fluid,and calcification and ossification of the outer layer of the retina were found in some cases. CONCLUSION :Cytological examination of the subretinal fluid might be the liable method in differentiating between the Coats disease and retinoblatstoma. （Chin J Ocul Fundus Dis,1996,12: 157-159）
A review of 426 patients with retinoblastoma(RB)who presented to Eye Hospital of Zhongshan Ophthalmic Center from 1966 to 1991 showed that 81(19.01%)patients were more than or equal to 5 years of age(median age 6.95 years)at the time of initial diagnosis.All patients are unilateral except 4 cases who are bilateral.The main presentations included leukocoria,exophthalmos,congertion and pain of the eye,drcreased vision,strabismus,oculare hypertension,vitreous opacity,hypopyon and hyphema,etc.Some atypical presentations in these older patients with RB were discussed and some problems that should be noticed in the diagnosis and management were presented.discussed and some problems that should be noticed in the diagnosis and management were presented. （Chin J Ocul Fundus Dis,1993,9:205-206）
PURPOSE: To produce monoclonal antibodies directed against tumor-associated antigens expressed of retinoblastoma-derived tissue culture cell line SO-RBS0. METHODS:Hybridization was performed and the specificity of the antibody was tested by immunofluorescent and immunohistochemical methods. RESULTS:Two hybridomas secreted specific monoclonal antibody against retinoblastoma cells were produced ,and the isotype of the monoclonal antibody was IgG2a CONCLUION:The monoclonal antibodies were specific and highly active against retinoblastoma cells and might be used as immunoconjugate.
PURPOSE:Studying the multidrug resistance(MDR) phenotype occurring in retinoblastoma and its mechanism. METHODS:Using the procedure of stepwise increase in drug concentrations to obtain a retinoblastoma subline which resistant to 600ng/ml vincristine (HXO-RB/VCR). Characteristics of this drug-resistant cell line were investigated by cell counting,drugcontents determinatin,drug sensitivity evaluation and radiation sensitivity test. RESULTS:This cell line was cross-resistant to VDS,MMC VP16，ADM ,DDP,CBP,but not resistant to BCNU and 5-Fu. It was proved to be collaterally sensitive to MTX,and the response to 60Co gamma;-ray was modified slightly in HXO-RB/VCR cell line. Intracellular levels of VCR was much higher in HXO-RB44 cells than in the resistant subline. Those cross-resistances can be reversed by verapamil partly. CONCLUSIONS:MDR and radiation resistance of retinoblastoma can be induced by exposing to VCR and reversed by verapamil partly. （Chin J Ocul Fundus Dis,1997,13: 6-9）
Silver staining technique and computer-assisted image analysis system were used in this study to detect,compare and analyse the nuclear organizer regions(NORs)in human normal retina and retinoblastoma(including differentiated and non-differentiated).The results showed that the mean number of AgNOR per nucleus,the average silver staining area per nucleus and retino of silver staining area to nuclear area in non-differentiated retinoblastoma were much higher than that in differentiated retinoblastoma and normal retina.This might suggest that AgNORs technique and computer-assisted image analysis system have important role in the typing,grading and expectation of progression of retinoblastoma. （Chin J Ocul Fundus Dis,1993,9:202-204）
ObjectiveTo identify the pathogenic mutation in a three generation Chinese family with low penetrance retinoblastoma (RB). Methods8 from 9 family members received complete ophthalmic examinations. DNA was extracted from 6 family members. Using exon combined target region capture sequencing chip to screen the candidate disease-causing mutations. Sanger sequencing were used to confirm the disease-causing mutation. ResultsAmong 9 family members, the proband (Ⅲ2) was bilateral RB, Ⅲ1 was unilateral RB, Ⅲ3 was dead for bilateral RB. Normal fundus were observed in the left eye ofⅢ1 and the eyes of other family members except the proband. Sequence analysis of RB1 gene revealed a missense mutation c.1981C > T (p.Arg661Trp) in the proband and two carriers (Ⅱ2, Ⅱ3), but not in the two normal subjects (Ⅱ1, Ⅱ4). We suspect that the RB penetrance in the family was 50%. ConclusionsThere is a missense mutation c.1981C > T in a Chinese family with low penetrance RB. The RB penetrance is 50%.
Objective To compare the differences of chromosome aberration and Rb 1 gene mutation among 3 cloned cells of SO-Rb50 cell line of retinoblastoma. Methods 1.Three cell cloned strains named MC2, MC3, MC4 were isolated from SO-Rb50. 2. Gbanding and karyotype analysis were performed on the llth passage cells of the 3 cell strains.3.All exons and the promoter region of the Rb gene were detected by PCR-SSCP analysis in tumor cell DNA extracted from the 3 cell strains. Results 1.Both numerical and structural chromosomal aberrations could be observed in these 3 cell strains.Several kinds of structural chromosomal aberrations were observed.The chromosome aberrations in the same passage of different cell strains were different.Aberration of chromosome 13 was rare and the aberration feature was different in the 3 cell strains.Five marker chromosomes were identified.M1,t(1;1)qter-p35∷q24-ter could befound in all cell strains.Two of them M4 and M5,have not been reported in SO-Rb50 cell line previously.2.SSCP analysis of exon 24 showed that MC411 and MC3138 had abnormal band. Conclusions The characteristics of heterogeneity of the original tumor cell line SO-Rb50are still kept during a long-term culture in vitro and the cloned strains had dynamic changes during this period.Aberration of chromosome 13 is not the only cause of RB;aberration of chromosome 1,a commom event in some neoplasias as well as in SO-Rb50, plays a meaningful role in the immortalization of this cell line. (Chin J Ocul Fundus Dis, 1999, 15: 146-148)
Objective To explore the characteristics and diagnostic values of ultrasound examination of retinoblastoma (RB).Methods The ultrasound and CT features of 210 eyes (162 patients) with pathologically confirmed RB were analyzed retrospectively. Results The ultrasonography image of those RB eyes were all characterized by substantial masses in the posterior segment of the eyeball, shown as spherical, hemispherical and irregular in shape, and even filled the entire eyeball. Calcification within the mass was observed in 197 eyes of 149 patients (92.0%), but not observed in 13 eyes of 13 patients (8.0%).Colorful blood flow signals extended from the central retinal vessels could be seen inside the masses of all patients. Ultrasound diagnosis was consistent with the pathological diagnosis in 92.0% RB cases. CT examination revealed calcified speckles or plaques in 167 eyes from 145 patients (89.5%), consistent with the pathological diagnosis of RB.Conclusions Ultrasonography can show the tumorprime;s shape, size, internal features and the range of orbital involvement. It is a valuable clinical tool in the diagnosis of RB.
ObjectiveTo observe the curative effect, survival rate, enucleation rate and pathological characteristics of retinoblastoma (RB) in children.MethodsRetrospective clinical study. From March 1999 to December 2018, a total of 313 patients (445 eyes) with RB diagnosed in Ophthalmology Department of Peking University People’s Hospital were enrolled in the study. Among them, 175 were male (55.9%), 138 were female (44.1%); 181 were monocular and 132 were binocular. The international standard of intraocular RB staging (IIRC) was 6, 13, 6, 52, 227 and 9 patients of A, B, C, D, E and extraocular stages respectively. Among the 313 patients, 245 patients were confirmed to the survivance, of which 22 cases (9.0%, 22/245) died. Among 445 eyes, 330 eyes definitely whether or not were enucleated; 184 eyes had definite IIRC stage, eye examination results, definite treatment plan and times before enucleation and definite pathological tumor node metastasis stage after operation. The basic information, demographic characteristics, clinical information, enucleation and treatment plan, pathological and immunohistochemical results were recorded. Binary logistic regression was used to analyze the risk factors of high risk pathological features (HRF) and prognosis in patients with RB.ResultsFrom 1999 to 2018, the survival rate of 245 patients was increased from 82.6% to 96.3% year by year; the enucleation rate of 330 eyes with final enucleation was reduced from 68.8% to 58.3% year by year. The rate of enucleation in stage D and stage E decreased from 83.3% and 100% before 2005 to 37.5% and 85.4% after 2014, respectively. Monocular disease (β=－1.551, P=0.005), stage D, stage E and extraocular stage in IIRC stage (P＜0.005) were the independent risk factors of RB enucleation, while the protective factors were Interventional chemotherapy of ophthalmic artery (IAC) (β=－0.877, P＜0.001). HRF was found in 51 eyes (27.7%). Age of onset (β=0.019, P=0.016) and glaucoma (β=0.816, P=0.050) were independent risk factors for HRF in RB pathology, while IAC treatment was the protective factor for enucleation (β=21.432, P＜0.001).ConclusionsAfter comprehensive treatment, the general trend of RB enucleation rate is gradually decreasing. IAC treatment can reduce the enucleation rate of stage D and E. The older age of onset and glaucoma stage are the independent risk factors of HRF, and IAC can reduce the risk factors of HRF.
Objective To probe the relationship of differentiation degree with spread or survival prognosis in retinoblastoma (RB). Methods Clinical data, follow up status and eyeball specimens in 156 RB cases were investigated retrospectively. The tumors were divided into differentiated and undifferentiated groups. Conditions of the tumor invasion of ocular or surrounding tissues were reviewed. The fatality rate was obtained from the follow-up materials of 82 cases of RB. The fatality rate and the invasion rate between the two types were compared statistically by Chi-square test. In addition, the relation between the tumor invasion and death ,and the average survival time for dead people after surgery were explored. Results Local invasion of tumor cell was found in 8 eyes among 17 eyes with differentiated RB (47.06%),and in 66 eyes among 139 eyes with undifferentiated RB (47.48%).There was no significant difference with regards to the local invasion between the two types ( The fatality rate of cases of differentiated RB was 27.27%,and 22.54% in undifferent iated RB, and there was no statistical difference between the two types .The fat ality rate for patients with orbital and scleral extension was 100%, optic nerve invasion (grade Ⅳ) was 62.50%,and uveal invasion was 22.22%.The survival time for the dead victims were from 5 months to 41 months and averaged to 21.92 months. Conclusion There was no significant differ ence both in survival prognosis and local invasion between the two types. The survival prognosis of metastatic RB was dependent on the degree of spread and the efforts of treatment and regardless of the types of differentiation of RB cells. (Chin J Ocul Fundus Dis, 2001,17:18-20)