A case of retinoblastoma and Coats' disease in the same eye is presented. Coexisitence of the retinoblastoma and Coats' disease is very rarely seen, though the retinoblastoma or the Coats' disease are not uncommon diseases. After the enucleatIon under the clinical diagnosis of retinoblastoma, the careful histopathological study disclosed the unusual findings of a typical Coats' disease containing predominent telangiectasis adjacent to the undifferentiated retinoblastoma cell mass. Differentiation of Coats' disease to the so-called Coats' reaction associated with a certain retinal disorders is emphasized on the histological view point.
Diagnosis ; Retinaldehyde ; Retinoblastoma* ; Telangiectasis

Adult ; Humans ; Immunohistochemistry ; Male ; Retinoblastoma ; diagnosis

Retinal dysplasia is an important disease in the study of retinal development. The differential diagnosis of retinal dysplasia from retinoblastoma is very difficult to make clinically, but histologically the diagnosis is made by the structure of rosettes. The authors experimentally gave trauma to retina of rats and produced retinal dysplasia; we observed under electron microscope the incomplete rosette of retinal dysplasia and the complete rosette appearing in retinoblastoma. We concluded that both rosettes are formed in developing retina with environmental or hereditary defects and did a comparative study of their characteristic fine structures.
Animals ; Diagnosis ; Diagnosis, Differential ; Rats* ; Retina ; Retinal Dysplasia* ; Retinaldehyde* ; Retinoblastoma*

Child ; Consensus ; Humans ; Infant ; Retinal Neoplasms/diagnosis* ; Retinoblastoma/diagnosis*

Retinoblastoma has been established as an inheritable disease. To the development of sporadic cases the mutation can be ascrivable. Once the gene has been established, however, it is transmitted as an autosomal dominant characteristics with incomplete penetrance. The cases reported here was established in siblings which are of the extremely rare entities. Two families are reported here, which is one of the rare occurence. 1st. Family: The retinoblastoma affect 4 siblings(male, 2. female, 2) in 8 siblings(male, 3. female, 5). Of this 4 cases, 3 died of progression of retinoblastoma, while the one left was in apparent good health with early enucleation. 2 nd. family: Retinoblastoma existed in two siblings(male, 1. female, 1). The male dead 1 year after diagnosis of retinoblastoma and the other one refused radical treatment and lost in follow up.
Diagnosis ; Female ; Follow-Up Studies ; Humans ; Male ; Penetrance ; Retinoblastoma* ; Siblings

A case of Osteogenic sarcoma arised from orbit 4 years after the radiation therapy for retinoblastoma in a 9 years old girl is presented. 4 Years ago, under the diagnosis of retinoblastoma, the left orbital exenteration was performed and was treated with x-ray radiation giving 4.500 gamma tumor dose in 4, weeks. On admission, the left orbital cavity was filled with hard mass and orbital bone revealed extensive destruction with osteoplastic changes on x-ray, and diffuse sarcomatous growth of anaplastic cells with abundant osteogenesis and osteoclastic activity microscopically. It is of authors' opinion that osteogenic sarcoma of orbital bone in this presented case might developed by irradition on retinoblastoma.
Child ; Diagnosis ; Female ; Humans ; Orbit ; Osteoclasts ; Osteogenesis ; Osteosarcoma* ; Retinoblastoma*

Retinoblastoma, a child tumor of the eye, is caused by two mutational events at the retinoblastoma gene (RB1). Retinoblastoma occurs in both hereditary and nonhereditary forms, and this distinction has important implications for patients and their families. In most patients with isolated unilateral retinoblastoma, tumor development is initiated by somatic inactivation of both alleles of the RB1 gene. Some of patients with hereditary retinoblastoma initially present with unilateral disease, and up to 10% to 12% of these patients only express unilateral disease. Germline mutation in RB1 gene confer hereditary predisposition to retinoblastoma. This study was designed to identify germline mutations in RB1 gene in Korean retinoblastoma patients. Samples of peripheral blood were obtained from 5 patients with isolated unilateral tumors. To detect genetic alteration in RB1 gene, exon 8, 10, 11, 14~20, 22 and 23 were investigated by PCR -SSCP. Bandshifts on SSCP were found in three out of 5 patients at exon 8. There were same point mutations from CGA (arginine) to TGA (stop codon) at codon 251 in exon 8 of RB1 gene. This point mutation has not been found in Korean patient with retinoblastma. But it is common mutation on the Western reports and Korea 's annual incidence of this tumor is similar in proportion to that of the West. Therefore, if a lot of patients are investigated to elucidate RB1 mutation this point mutation will be found. Identification of the germline mutation in RB1 gene would help to improve the presymptomatic diagnosis and clinical management to retinoblastoma patients.
Alleles ; Child ; Codon ; Diagnosis ; Exons ; Genes, Retinoblastoma ; Germ-Line Mutation ; Humans ; Incidence ; Korea ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Retinoblastoma*

Retinoblastoma is the most common intraocular malignancy in childhood. Diagnosis is currently made by ophthalmologists under general anesthesia as it is the gold standard for intraocular assessment. However, evaluations for extraocular disease are also necessary. Treatment strategies vary according to the disease status. If a single eye is involved, the treatment goal is oriented to the removal of the tumor and prevention of relapse. In bilateral retinoblastoma, the main treatment goal is to save monocular vision and save life. This article will explore the available treatment options for retinoblastoma including enucleation, radiotherapy, local therapy, intravenous chemotherapy, intra-arterial injection and intra-vitreal injections. There were recent advances in our understanding on the genetic pathophysiology of the retinoblastoma protein gene in tumorigenesis, which may help developing future treatment. Early detection of retinoblastoma is important for prolonging survival and improving quality of life.
Anesthesia, General ; Carcinogenesis ; Diagnosis ; Drug Therapy ; Injections, Intra-Arterial ; Quality of Life ; Radiotherapy ; Recurrence ; Retinoblastoma Protein ; Retinoblastoma ; Stem Cell Transplantation ; Vision, Monocular

Radiotherapy result was analyzed in 23 children with retinoblastoma treated in Seoul National University Hospital from 1980 to 1987. Three (17%) had bilateral tumor at diagnosis. Among 20 children with unilateral retinoblastoma 13 children got radiotherapy after enucleation, 2 were treated with radiotherapy alone, and 5 were delivered with radiotherapy after relapse. Of 15 non-recurrent unilateral tumors, there were 5 stage II children, 8 stage III, and 2 stage IV by staging system proposed by St. Jude Children's Research Hospital. Chemotherapy was combined when resection margin of the optic nerve was positive or when malignant cell was found in SCF. Of 12 children who completed radiotherapy, local or distant failure was not found but 2 cases of relapse at the contralateral retina were observed. Their 5 year survival rate was 82.2%. Another case of contralateral relapse was detected in children who was treated with radiotherapy alone. Thus overall frequency of the bilateral disease was 33%. Prognosis of recurrent tumors were so poor that no cases of CR was obtained and that 3 year survival rate was 20%. Two of 3 bilateral cases at diagnosis were in NED status. Complication were sunken orbit only. Result of radiotherapy was so good in early stage or small bulk tumor that treatment delay after diagnosis must not be allowed.
Child ; Diagnosis ; Drug Therapy ; Humans ; Optic Nerve ; Orbit ; Prognosis ; Radiotherapy* ; Recurrence ; Retina ; Retinoblastoma* ; Seoul ; Survival Rate

PURPOSE: To investigate the courses leading to bilateral enucleation in bilateral retinoblastoma patients. METHODS: Medical records of 5 bilateral retinoblastoma patients who underwent bilateral enucleation were reviewed for patient information, history, change of tumor state during the treatment and the cause of bilateral enucleation. RESULTS: Out of 48 bilateral retinoblastoma patients, both eyes were saved in 6 children, 1 eye was saved in 37 children, and the remaining 5 children lost both eyes. All patients who underwent bilateral enucleation were female and had no family history of retinoblastoma. At diagnosis, 3 children were 4 months old and the remaining 2 patients were 1 year and 1.5 years old each. Out of 10 eyes, 8 eyes were in Reese Ellsworth group V and the remaining 2 eyes were in group III. The initial treatment was enucleation of 1 eye followed by chemotherapy in 3 patients, and chemotherapy alone in 2 patients. Additional treatment included laser photocoagulation, cryotherapy, external beam radiation therapy and proton beam irradiation. Vitreous seeding, development of new tumors, and increase in tumor size despite of intensive, conservative treatment resulted in second enucleation. CONSLUSION: Most patients who underwent bilateral enucleation were 1 year old or younger at diagnosis of retinoblastoma. All patients had a progressed disease status at presentation and showed poor response to intensive, conservative treatment.
Child ; Cryotherapy ; Diagnosis ; Drug Therapy ; Female ; Humans ; Infant ; Light Coagulation ; Medical Records ; Protons ; Retinoblastoma*