Documented delays in the diagnosis of retinoblastoma.
Explore the source record for details and available documents.
Child↗
Biomedical subjects
R M Ellsworth
Publications and source records attributed to R M Ellsworth.
Metastatic patterns of retinoblastoma.
Of 23 cases of metastatic retinoblastoma treated between 1922 and 1979, seven had metastases limited to the cranial vault and 13 had cranial metastases plus distant metastases. Globe pathology showed invasion of the optic nerve and/or the choroid in all but two patients, but was not predictive of the metastatic pattern. Initial signs of metastases were neurologic impairment and an orbital or body mass; first symptoms were anorexia or weight loss, vomiting, and headache. Most cases occurred by 3 years of age. Death occurred within 5.8 months on the average, despite therapy. Useful tests for determining the extent of disease were bone marrow aspiration, lumbar puncture, skull films, EEG, and brain scan. Computed tomographic scans of the head, bone scans, bone marrow aspiration, automated blood chemistry analysis, and lumbar puncture with immediate ethyl alcohol processing should prove to be useful to detect metastatic disease.
Bone Neoplasms↗
Treatment of total retinal detachment in morning glory syndrome.
A 14-year-old girl had headaches and sudden loss of vision as a result of total retinal detachment in association with the morning glory optic nerve anomaly. Metrizamide cisternography with contrast dye introduced into the subarachnoid space disclosed migration of metrizamide with radiographic enhancement in the subretinal space. The demonstration of an abnormal communication between the subarachnoid and subretinal spaces suggested that the subretinal fluid is of cranial origin. The patient underwent surgical removal of a window of dura from the optic nerve sheath. This resulted in retinal reattachment and improvement of visual acuity to 20/200. The retina was still attached after a 15-month follow-up period.
Adolescent↗
Retinal detachment in the morning glory anomaly.
The morning glory anomaly is a rare congenital clinical entity that results from abnormal optic nerve development. In our series of 30 patients, followed for a mean duration of 10.3 years, 11 developed associated retinal detachments. These detachments followed a variable clinical course, including spontaneous reattachment and even redetachment, and may result from an abnormal communication between the subarachnoid space of the optic nerve and the subretinal space, allowing cerebrospinal fluid to accumulate subretinally. The clinical findings (including ultrasonography, computed tomography, and electrophysiologic testing), natural history, complications, and therapeutic indications are discussed.
Adolescent↗
Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced?
A review of 693 patients with bilateral retinoblastoma and 18 patients with unilateral/germinal retinoblastoma was carried out to find the incidence, time, course and pattern of second nonocular tumors in retinoblastoma survivors. Of 688 patients who survived therapeutic radiation for retinoblastoma, 89 developed second tumors: 62 in the field of radiation and 27 out of the field. Of 23 patients who received no radiation, five developed second tumors: one in the field and four out of the field. The most common tumor found was a sarcoma both in and out of the field of radiation. The incidence of second tumors increases with time, although the mean latent period is 10.4 years. At 10 years, the incidence of second tumors is 20%, at 20 years, it is 50% and at 30 years, 90%. The incidence of tumors in patients treated without radiation and where tumors developed outside the field was 10% at 10 years, 30% at 20 years and 68% at 32 years. There was no relationship between incidence of tumors and dose of therapeutic radiation when analyzed with life tables. A second course of radiation therapy did not increase the incidence of second nonocular tumors.
Brain Neoplasms↗
Cytogenetic analysis of retinoblastoma: evidence for multifocal origin and in vivo gene amplification.
Retinoblastoma (Rb) is an uncommon childhood tumor of the neural retina with a significant genetic component in its etiology. A small proportion of patients have a deletion in chromosome 13 encompassing band 13q14, an observation which permitted the assignment of the RB1 locus to this region. About 20% of Rb tumors exhibit microscopic deletions of band 13q14 or monosomy 13. Trisomy 1q and i(6p) have also been reported in a high percentage of tumors. We analyzed the chromosome complements from direct preparations of 10 Rb tumors derived from seven patients. Modal chromosome numbers ranged from 45 to 48, and occasional duplications of the genomes were noted. In general, the tumors were chromosomally stable, although karyotypic evolution and random chromosome loss were encountered. Consistent abnormalities included trisomy 1q, i(6p), 6q-, and del(13)(q12----14). One patient with bilateral Rb had three tumor clones (two in one eye and one in the other) with chromosome abnormalities unrelated in origin. A second patient with unilateral Rb had two tumor clones with chromosome abnormalities again unrelated in origin. These two patients provide some of the first cytogenetic evidence for the multifocal origin of primary Rb. In the untreated tumor of a third patient, a homogeneously staining region (HSR) was detected in 1p32, indicating gene amplication in vivo; previously, an HSR at this site has been reported in the established Rb cell line Y79.
Adolescent↗
Bleomycin-induced chromosome breakage in G2 lymphocytes of retinoblastoma patients.
Retinoblastoma (Rb) cells may be more sensitive to X-irradiation than normal cells when assayed for clonogenic survival, suggesting that such sensitivity can be used as a trait for detecting RB1 gene carriers. We studied induction of chromosome damage in lymphocytes from patients with Rb by the radiomimetic antineoplastic antibiotic, bleomycin (BL). Lymphocytes were treated in G2 for 4 h at four concentrations of the drug (0.0, 0.3, 0.9, and 2.7 micrograms/ml), and chromosome damage was evaluated. No difference in levels of spontaneous or induced damage was detected among hereditary Rb, non-hereditary Rb, and normal lymphocytes. The role of X-ray treatment in the induction of second tumors in Rb patients is discussed.
Bleomycin↗
Radiation regression patterns after cobalt plaque insertion for retinoblastoma.
An analysis of 31 eyes of 30 patients who had been treated with cobalt plaques for retinoblastoma disclosed that a type I radiation regression pattern developed in 15 patients; type II, in one patient, and type III, in five patients. Nine patients had a regression pattern characterized by complete destruction of the tumor, the surrounding choroid, and all of the vessels in the area into which the plaque was inserted. This resulting white scar, corresponding to the sclerae only, was classified as a type IV radiation regression pattern. There was no evidence of tumor recurrence in patients with type IV regression patterns, with an average follow-up of 6.5 years, after receiving cobalt plaque therapy. Twenty-nine of these 30 patients had been unsuccessfully treated with at least one other modality (ie, light coagulation, cryotherapy, external beam radiation, or chemotherapy).
Adolescent↗
Retinoblastoma treated in infants in the first six months of life.
One hundred fifty-eight children with retinoblastoma received diagnoses and were treated during the first six months of life and then were observed for a mean of 7.4 years. The mean age at diagnosis was 3.6 months. Four patients received diagnoses at birth, one of metastatic disease. Ninety-four patients (60%) had leukokoria, reflecting the fact that 108 (68%) were initially seen with group V tumors (Reese-Ellsworth staging) despite their young age. One hundred seven (68%) were initially seen with bilateral retinoblastoma and 51 (32%) were seen with unilateral disease; in ten of the latter group, tumors later developed in the fellow eye. The eyes of 90 patients with bilateral involvement were asymmetric at first visit (that is, their eyes were involved at different stages of disease). Of 52 eyes receiving bilateral irradiation, 26 (50%) required further treatment, 23 (70%) of these for a resistant tumor and ten (30%) for new tumors. Despite the early age at diagnosis and treatment, 13 (25%) of treated eyes ultimately required enucleation. Metastatic retinoblastoma developed in ten patients and they died. Second, nonocular tumors developed in 13 patients. Early age at diagnosis does not ensure that the disease is caught at an early stage.
Eye Neoplasms↗
The management of unilateral retinoblastoma without primary enucleation.
Sixty-six patients were treated "conservatively" for unilateral retinoblastoma. Forty-eight of 57 (84%) were treated primarily with unilateral radiation, one patient was treated with a cobalt plaque, and eight patients were treated with either cryopexy or xenon arc photocoagulation. With a median follow-up of 73 months, there have been no deaths. Five of 39 eyes that were in groups I to III have been salvaged. Virtually all eyes in groups IV and V (12 of 14) came to enucleation. The age at diagnosis for patients with a positive family history was early (2.5 months), and the patients had a greater number of individual tumors in one eye (2.4), compared with those without a positive family history (27 months, 1.2 tumors per eye). When unilateral retinoblastoma is detected at an early age, the most common sign is strabismus, not leukokoria.
Child, Preschool↗
Cryotherapy for retinoblastoma.
Cryotherapy was applied to 138 intraocular retinoblastoma tumors from 113 patients who were followed up for a mean of 40 months (four to 144 months). Overall, 70% of tumors were cured with cryotherapy and 93% of patients treated with cryotherapy survived. Twenty-one tumors were treated initially with cryotherapy alone, and 20 such tumors were cured. Twenty-seven new tumors appeared in eyes after radiation therapy and of these, 23 were cured with cryotherapy. Thirty-nine tumors were treated with cryotherapy after unsuccessful treatment with external beam irradiation, and 35 were cured with cryotherapy. Twenty-eight patients developed implantation seeds at the vitreous base after external beam irradiation but cryotherapy failed in each of these cases. There were few long-term ocular complications from cryotherapy despite intensive, heavy, and repeated cryotherapy. The limiting factor that determines success of cryotherapy is the size, elevation, and location of the tumor.
Child, Preschool↗
Retreatment of retinoblastoma with external beam irradiation.
A retrospective review of cases on file at the Ophthalmic Oncology Center of New York Hospital-Cornell Medical Center, New York, was undertaken to examine the effectiveness of a second course of radiotherapy on retinoblastoma. One hundred four patients were found to have been treated with at least two courses of external beam irradiation to one eye. All but one of the cases were bilateral, the other eye with more advanced disease having been previously enucleated. At the time the decision was made to repeat radiotherapy, 15 eyes could be classified group I, II, or III. Twelve (80%) of these eyes survived. Of the 89 eyes that showed more advanced growth (group IV or V), only two (2.2%) survived. In all, 14 of the 104 eyes wer saved--nine with useful (macula) vision, five without. Second nonocular tumors developed in 18 patients (22.8% of those who survived retinoblastoma itself). There appears to be no increased risk of second tumors from the second course of irradiation.
Child, Preschool↗
Significance of retinoma and phthisis bulbi for retinoblastoma.
Genetic counseling of retinoblastoma (RB) patients and their families is difficult and inaccurate. The data in this paper show that two ocular lesions, retinoma and phthisis bulbi, are associated with RB and can be useful in diagnosis and counseling. Phthisis bulbi is the end result of many conditions and can only be linked to RB if other evidence is present. Retinomas, on the other hand, have three distinctive clinical characteristics (irregular translucent retinal mass, calcification, and pigment epithelial disturbance) and quite accurately predict the presence of the RB gene. Recognition of the significance of retinoma and phthisis bulbi with respect to the RB gene is critical in genetic counseling. Of 34 individuals studied, 32 with retinoma and five with phthisis bulbi, two thirds had a family history of RB or RB in the other eye, and 23/37 of their offspring developed RB. The clinical course of RB in the six children known to be at risk on the basis of detection of the gene in the parent was significantly better than in 17 children that were symptomatic at the time of diagnosis.
Adult↗
Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?
Non-progressive retinal lesions, observed in patients known to carry the gene for retinoblastoma, have in the past been called "spontaneous regression" of retinoblastoma. This term suggests shrinkage of a malignant growth, perhaps in response to some host defence mechanism. On the basis of observations on 30 patients, we propose that the term "retinoma" would be less presumptive and more suitable. Retinoma is clinically defined as a translucent, grey, elevated mass extending into the vitreous from the retina, frequently associated with calcified foci and pigment-epithelium hyperplasia. The diagnosis of retinoma strongly suggests the presence of the retinoblastoma gene, necessitating genetic counselling and frequent observation of the retinas in the individual and his offspring. We suggest that the same mutations can cause either retinoma or retinoblastoma: benign hyperplastic nodules or retinoma when the mutations occur in relatively mature retinoblasts; and malignant retinoblastoma when the same mutations arise in immature retinoblasts.
Adolescent↗
Treatment of bilateral groups I through III retinoblastoma with bilateral radiation.
Thirty-seven patients with bilateral retinoblastoma, groups I, II, and III, were treated with simultaneous bilateral radiation. The median age at diagnosis was 4 months. Twenty-two of these patients were examined because of known history of retinoblastoma. Eight of these 22 patients had no evidence of retinoblastoma on at least one examination before the detection of retinoblastoma, and two had bilateral disease present at birth. Of 74 eyes treated, 39 required additional treatment and 11 ultimately were enucleated. Three patients died of metastatic disease. Seven patients subsequently had second nonocular tumors develop that were both in and out of the field of radiation.
Child↗
Simultaneous bilateral radiation for advanced bilateral retinoblastoma.
A retrospective review of 1,424 cases of retinoblastoma disclosed 34 patients with advanced bilateral retinoblastoma whose sole initial treatment was simultaneous bilateral radiation. All patients had a combination of bilateral group IV or V retinoblastoma. Mean age at diagnosis was 13.1 months. Five-year survival of patients was 88% (28/32). In two (7%) of 28 surviving patients, a second nonocular tumor developed: one inside and one outside the field of radiation. Of the 64 eyes treated, 44 ultimately were enucleated. Of ten eyes requiring a second course of radiation, nine were enucleated. In only one eye was enucleation due to radiation complications. Eleven patients required additional treatment with light coagulation, cryopexy, or cobalt plaques.
Adolescent↗
External beam radiation for retinoblastoma.
Explore the source record for details and available documents.
Child↗
Osteogenic sarcoma of the humerus after cobalt plaque treatment for retinoblastoma.
A 13-year-old boy developed an osteogenic sarcoma of the right humerus ten years after treatment for bilateral retinoblastoma. The bilateral retinoblastoma has been managed with enucleation of one eye and successful treatment of the solitary tumor in the other eye with a single application of a local 10-mm round cobalt plaque. Patients with bilateral retinoblastoma have a significant (15 to 20%) chance of developing a second, nonocular, neoplasm. These neoplasms have occurred from one to 42 years after the treatment for retinoblastoma. The most common of these tumors is an osteogenic sarcoma; it may occur after external beam irradiation, local cobalt plaque, or no irradiation. The tumors may be in the skull or at distant sites whether or not these patients receive radiation.
Adolescent↗