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

PURPOSE: To evaluate the long-term visual outcomes and complications of cataract surgery in eyes previously treated for retinoblastoma. METHODS: We reviewed the medical records of patients who underwent cataract extraction and intraocular lens implantation at Seoul National University Children's Hospital for a secondary cataract that developed after retinoblastoma treatment. RESULTS: During the period between 1990 and 2014, 208 eyes of 147 patients received eye-salvaging treatment (radiotherapy, chemotherapy, and local therapy) for retinoblastoma at Seoul National University Children's Hospital. Among these eyes, a secondary cataract was detected in 17 eyes of 14 patients, and five eyes of five patients underwent cataract surgery. The median age of cataract formation was 97 months (range, 38 to 153 months). The medial interval between the diagnosis of retinoblastoma and cataract formation was 79 months (range, 29 to 140 months). All patients received posterior chamber intraocular lens insertion after irrigation and aspiration of the lens through a scleral tunnel incision. Anterior vitrectomy and posterior capsulotomy were performed in two eyes and a laser capsulotomy was subsequently performed in one eye. No intraoperative and postoperative complications occurred. The median follow-up after surgery was 36 months (range, 14 to 47 months). The final best corrected visual acuities were improved in all five eyes. No intraocular tumor recurrences or metastases occurred. CONCLUSIONS: After retinoblastoma regression, cataract extraction in our series was not associated with tumor recurrence or metastasis. Visual improvement was noted in every patient.
Capsule Opacification ; Cataract Extraction ; Cataract* ; Diagnosis ; Drug Therapy ; Follow-Up Studies ; Humans ; Lens Implantation, Intraocular ; Lenses, Intraocular ; Medical Records ; Neoplasm Metastasis ; Posterior Capsulotomy ; Postoperative Complications ; Radiotherapy ; Recurrence ; Retinoblastoma* ; Seoul ; Visual Acuity ; Vitrectomy

No abstract available.
Radiotherapy* ; Retinoblastoma* ; Rhabdomyosarcoma*

The risk of radiotherapy-related secondary cancers in children with constitutional retinoblastoma 1 (RB1) mutations has led to reduced use of external beam radiotherapy (EBRT) for RB. Presently, tumor reduction with chemotherapy with or without focal surgery (chemosurgery) is most commonly undertaken; EBRT is avoided as much as possible and is considered only as the last treatment option prior to enucleation. Nevertheless, approximately 80% of patients are diagnosed at a locally advanced stage, and only 20-25% of early stage RB patients can be cured with a chemosurgery strategy. As a whole, chemotherapy fails in more than two-thirds of eyes with advanced stage disease, requiring EBRT or enucleation. Radiotherapy is still considered necessary for patients with large tumor(s) who are not candidates for chemosurgery but who have visual potential. When radiation therapy is indicated, the lowest possible radiation dose combined with systemic or local chemotherapy and focal surgery may yield the best clinical outcomes in terms of local control and treatment-related toxicity. Proton beam therapy is one EBRT method that can be used for treatment of RB and reduces the radiation dose delivered to the adjacent orbital bone while maintaining an adequate dose to the tumor. To maximize the therapeutic success of treatment of advanced RB, the possibility of integrating radiotherapy at early stages of treatment may need to be discussed by a multidisciplinary team, rather than considering EBRT as only a last treatment option.
Child ; Child, Preschool ; Eye Neoplasms/genetics ; Genes, Retinoblastoma/genetics ; Humans ; Radiotherapy Dosage ; Retinal Neoplasms/*radiotherapy ; Retinoblastoma/genetics/*radiotherapy

Retinoblastoma is a rare disease, but most common tumor which arises in eye. It can affect one or both eyes, and the main pathophysiology is explained by the "Two-hit theory" - the germline mutation of the RB1 gene. Most common clinical symptoms are leuocoria, strabismus, poor visual tracking, glaucoma, and orbital cellulitis. Diagnosis is made by ophthalmologist through fundoscopic examination; Examination under General Anesthesia (EUA) is recommended until the age 3. Orbital CT and MRI can detect the tumor invasion on optic nerve, central nervous system. CSF studies, examination of bone is helpful if the distant metastasis is suspected. Biopsy is rarely done unless in the case of enucleation. Enucleated eye should be explored for the invasion to the optic nerve, choroid, anterior chamber, iris and pupil. Treatment strategies can be different according to the disease status. If the single eye is involved, the treatment goal will be the removal of tumor and prevention of relapse. Local therapies include cryotherapy, laser photocoagulation, thermotherapy can be the choice, and if the tumor is too large for the local therapy, enucleation should be concerned. Nowadays, chemo-reduction combined with local therapy, intra-arterial and intravitreous chemotherapeutic agent injections are studied to avoid enucleation. In bilateral retinoblastoma, multidisciplinary treatments include chemoreduction, external beam radiotherapy, local therapy and other experimental therapies are needed: like intra-arterial injection, intra-vitreal injection, and high-dose chemotherapy with autologous stem cell transplantation. Early detection of retinoblastoma is important to save the vision and eyeball.
Anesthesia, General ; Anterior Chamber ; Biopsy ; Central Nervous System ; Choroid ; Cryotherapy ; Diagnosis ; Drug Therapy ; Eye Enucleation ; Germ-Line Mutation ; Glaucoma ; Hyperthermia, Induced ; Injections, Intra-Arterial ; Intravitreal Injections ; Iris ; Light Coagulation ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; Optic Nerve ; Orbit ; Orbital Cellulitis ; Pupil ; Radiotherapy ; Rare Diseases ; Recurrence ; Retinoblastoma ; Stem Cell Transplantation ; Strabismus ; Therapies, Investigational

Adult ; Aged ; Dermatologic Surgical Procedures ; methods ; Facial Asymmetry ; surgery ; Facial Injuries ; surgery ; Humans ; Male ; Maxillary Neoplasms ; radiotherapy ; surgery ; Maxillofacial Prosthesis ; Middle Aged ; Postoperative Complications ; Reconstructive Surgical Procedures ; methods ; Retinal Neoplasms ; radiotherapy ; surgery ; Retinoblastoma ; radiotherapy ; surgery ; Young Adult

PURPOSE: To evaluate the clinical results of proton beam radiation therapy (PBRT) for treatment of retinoblastoma. METHODS: Children with retinoblastoma who were treated with chemotherapy and focal treatment such as brachytherapy and thermotherapy but showed no response or developed recurrences later received PBRT. The PBRT strategy was designed to concentrate the radiation energy to the retinoblastoma and spare the surrounding healthy tissue or organs. RESULTS: There were three patients who received PBRT. The first patient received PBRT because of an initial lack of tumor regression with chemotherapy and brachytherapy. This patient showed regression after PBRT. The second patient who developed recurrence of retinoblastoma as diffuse infiltrating subretinal seeding was taken PBRT. After complete regression, there was recurrence of tumor and the eye was enucleated. The third patient had unilateral extensively advanced retinoblastoma. Initial chemotherapy failed and tumor recurred. The tumor responded to PBRT and regressed significantly. However, the eye developed sudden multiple recurrences, so we had to perform enucleation. CONCLUSIONS: PBRT for retinoblastoma was effective in cases of showing no response to other treatment modalities. However, it should be carefully applied when there was recurrence of diffuse infiltrating subretinal seeding or extensively advanced retinoblastoma initially.
Child, Preschool ; Combined Modality Therapy ; Drug Resistance ; Female ; Humans ; Infant ; Male ; Retinal Neoplasms/drug therapy/*radiotherapy/surgery ; Retinoblastoma/drug therapy/*radiotherapy/surgery ; Retrospective Studies ; Treatment Outcome

The authors reviewed their experiences of external beam radiotherapy (EBR) as an initial treatment in retinoblastoma patients to determine its long-term effect on subsequent tumor control and complications. A total of 32 eyes in 25 patients that underwent EBR for retinoblastoma were reviewed retrospectively. The patients consisted of 21 boys and 4 girls of median age at treatment of 7.1 months. Radiation doses ranged from 35 to 59.4 Gy. The 10-yr ocular and patient survivals were 75.4% and 92.3%, respectively. Nine of the 32 eyes progressed; 7 of these were enucleated and 2 were salvaged by focal treatment. According to the Reese-Ellsworth classification, 4 of 5 eyes of Group II, 13 of 16 Group III eyes, 2 of 4 Group IV eyes, and 5 of 7 Group V eyes were retained, and of the 32 eyes, 13 had visual acuity better than 20/200. Eleven patients experienced a radiation-induced complication. No patient developed a second malignancy during follow-up. Despite the limited number of patients enrolled, EBR may provide a mean of preserving eyeball and vision for some advanced lesions.
Child ; Child, Preschool ; Eye Enucleation ; Female ; Humans ; Infant ; Korea ; Male ; Radiotherapy/*methods ; Radiotherapy Dosage ; Retinal Neoplasms/*radiotherapy ; Retinoblastoma/*radiotherapy ; Retrospective Studies ; Survival Rate ; Treatment Outcome

OBJECTIVETo study clinic therapeutic effect about reconstruction of severe orbital and cul-de-sac deformity after the radiotherapy with transcranial orbitotomy advancement combining cascade free flap both dorsum pedis flap and anterior tibial fascial flap.

METHODSFive cases was subjected to orbital and cut-de-sac severe deformities after both operation and radiotherapy because of retinoblastoma. The technique included transcranial orbital advancement by anterior orbital osteotomy and rigid fixed with titanic plate by coronal incision, and meanwhile incising the cul-de-sac which would be extended circumference around the central incision separation, and then designing extent of cascade flap consisted of dorsum pedis flap and anterior tibial fascial flap according to the size of cul-de-sac defect and extent of temporal depression. Then, the aforementioned two parts of cascade flap were transplanted into cul-de-sac and temple respectively. There is either the superficial temporal artery and vein or facial artery and jugular vein to chose vascular anastomosis.

RESULTSAll flaps survived. After 3 to 6 months following up, the results showed satisfactory orbital contour and temporal depression improved significantly in all cases. After the conjunctival sac were fixiformed with prefabricated eye prosthesis mode about 3 months. 3 cases have good appearance with wearing eye prosthesis and the other 2 cases' appearance is poor. One of the poor appearance cases, with depressed eye socket, have orbital implant underlying conjunctival sac in secondary operation. The other one, with swallowed inferior fornix, is transplanted autogenous hard palatal mucosa into inferior fornix in secondary operation. In addition, delayed healing in donor site of dorsum pedis occurred in one of the 4 cases.

CONCLUSIONSIt is a reliable procedure about reconstruction of severe orbital and cul-de-sac deformity after both the operation and radiotherapy with transcranial orbitotomy advancement combining cascade free flap both dorsum pedis flap and anterior tibial fascial flap. All deformity was corrected by one staged procedure which lessen patient's suffering and shorten patient's hospital stay and spare patient's costs.

Adolescent ; Adult ; Female ; Humans ; Male ; Orbital Diseases ; etiology ; surgery ; Osteotomy ; Radiotherapy ; adverse effects ; Reconstructive Surgical Procedures ; methods ; Retinoblastoma ; radiotherapy ; surgery ; Surgical Flaps ; Young Adult

PURPOSE: To report the result of combined chemotherapy and radiotherapy for 5 retinoblastoma patients. METHODS: Retrospective study of 5 patients (8 eyes) who were diagnosed with retinoblastoma of group III to V in the Reese-Ellsworth (R-E) classification was done. After 6 cycles of chemotherapy consisting of Vincristine, VP-16 (Etoposide) and Carboplatin, Radiotherapy (4500Gy/5weeks) was done. Neoaedjuvant therapy consisting of Nimustine and Carboplatin was done, and supplementary laser photocoagulation was done in 1 case. Mean follow-up period is 33 months. RESULTS: Significant reduction of tumor size and regression were observed in five eyes of R-E classification group V, and slight reduction of tumor size and regression were observed in three eyes of R-E classification groups III and IV. There was no recurrence and no new mass was detected. CONCLUSIONS: Combined chemotherapy, radiotherapy and supplementary therapy may save eyeballs which were diagnosed with retinoblastoma, even R-E classification group V.
Carboplatin ; Classification ; Drug Therapy* ; Etoposide ; Follow-Up Studies ; Humans ; Light Coagulation ; Nimustine ; Radiotherapy* ; Recurrence ; Retinoblastoma* ; Retrospective Studies ; Vincristine