ABSTRACT
BACKGROUND: A retrospective analysis of all patients with retinoblastoma on file at the Ophthalmic Oncology Center of the New York Hospital, Cornell University Medical Center was performed to examine the characteristics of retinoblastoma in children with a unilaterally affected parent. METHODS: Data were analysed for laterality of disease, age at initial diagnosis, number of tumour foci at diagnosis, ocular outcome, and patient survival. RESULTS: There were 54 patients, including nine pairs of siblings, diagnosed with retinoblastoma, each of whom had one unilaterally affected parent. The retinoblastoma was bilateral in 49 (91%) patients and unilateral in the remaining five (9%). The mean age at diagnosis was 10.5 months (range 1-36 months) and 35 patients (65%) were diagnosed within the first year of life. The mean number of initial tumour foci was 1.7 per eye; 1.6 foci per eye in bilaterally affected patients, and 3.7 foci per eye in unilaterally affected patients (p = 0.36). Retention of the eye was possible for 51 of 103 eyes affected with retinoblastoma. The mean follow up for patients was 9.0 years, with a range of 1 month to 30.5 years. There were a total of 12 deaths (22%): from retinoblastoma (two), sarcoma (five), cutaneous malignant melanoma (one), cancer type unknown (two), and cause unknown (two). CONCLUSION: Overall, the characteristics of retinoblastoma patients with a unilaterally affected parent, were similar when compared with all retinoblastoma patients with a positive family history.
Subject(s)
Eye Neoplasms/genetics , Family , Retinoblastoma/genetics , Age Factors , Child, Preschool , Eye Neoplasms/mortality , Eye Neoplasms/pathology , Humans , Infant , Pedigree , Retinoblastoma/mortality , Retinoblastoma/pathology , Retrospective Studies , Survival AnalysisABSTRACT
In 1972, the Intergroup Rhabdomyosarcoma Study standardized the classification and treatment of orbital rhabdomyosarcoma. It established chemotherapy with external beam radiotherapy as the standard of treatment, yet there was no comparison to treatment with external beam radiotherapy alone. We retrospectively examined the charts of patients with orbital rhabdomyosarcoma treated solely with external beam radiotherapy for the following data: age at diagnosis, gender, tumor recurrence, and tumor-related mortality. We followed 24 patients (mean follow-up 7.9 years) treated with external beam radiotherapy alone. The average age at diagnosis was 5.5 years; there were 15 males and 9 females. Three patients (12.5%) suffered tumor recurrence and there was one (4.2%) tumor-related death. When compared to the Intergroup Rhabdomyosarcoma Study, results suggest that chemotherapy with external beam radiotherapy may offer no advantage to external beam radiotherapy alone for the treatment of orbital rhabdomyosarcoma.
Subject(s)
Orbital Neoplasms/radiotherapy , Rhabdomyosarcoma/radiotherapy , Chemotherapy, Adjuvant , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Male , Neoplasm Recurrence, Local , Orbital Neoplasms/etiology , Orbital Neoplasms/mortality , Retrospective Studies , Rhabdomyosarcoma/etiology , Rhabdomyosarcoma/mortality , Survival RateABSTRACT
Microangiopathy of brain, retina, and inner ear is a rare syndrome manifesting as arteriolar occlusions of the brain, retina, and inner ear, with resultant encephalopathy, visual, and hearing loss. Despite exhaustive laboratory examinations in these patients, no evidence of a systemic disease can be found. We treated and followed an adolescent with this disorder who initially presented with a branch retinal artery occlusion. A unique finding in this case was retinal vessel wall hyperfluorescence noted five days prior to retinal infarction. The patient developed recurrent branch artery occlusions, sensorineural hearing loss, and central nervous system infarctions despite anticoagulation and immunosuppressive treatment.
Subject(s)
Cerebral Infarction/diagnosis , Hearing Loss, Sensorineural/diagnosis , Retinal Artery Occlusion/diagnosis , Adult , Anticoagulants/therapeutic use , Brain/blood supply , Brain/pathology , Cerebral Infarction/drug therapy , Female , Fluorescein Angiography , Fundus Oculi , Hearing Loss, Sensorineural/drug therapy , Humans , Immunosuppressive Agents/therapeutic use , Magnetic Resonance Imaging , Microcirculation , Retinal Artery/pathology , Retinal Artery Occlusion/drug therapy , Syndrome , Tinnitus/diagnosisABSTRACT
PURPOSE/METHODS: We reviewed follow-up data on 32 patients with orbital rhabdomyosarcoma, who were treated with external beam radiation with and without adjunctive chemotherapy between 1960 and 1992. RESULTS/CONCLUSIONS: Patients were followed up from five to eight years. Of the 32 patients, six (19%) had best-corrected visual acuity of 20/70 or better; five patients (15%) had best-corrected visual acuity of light perception to 20/300; 21 patients (66%) had no light perception. The reported long-term visual acuities should be factored in the equation for selecting treatment for patients with orbital rhabdomyosarcoma.
