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Simultaneous presentation of retinopathy of prematurity and bilateral familial retinoblastoma in a premature infant.
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Bilateral retinoblastoma presenting with simultaneous phthisis bulbi and buphthalmos.
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Trends in the management of retinoblastoma: evaluation of 1,196 consecutive eyes during 1974 to 2001.
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Prenatal diagnosis of retinoblastoma.
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Atypical presentations of retinoblastoma.
PURPOSE: To study the atypical presentations of retinoblastoma in our institution. METHOD: Retrospective, clinical study. RESULTS: A total of 392 cases of retinoblastoma were reviewed; 72.2% of the patients had leukocoria, 13% had proptosis, 10% had strabismus, 1.5% were asymptomatic (detected on screening), and 3.3% had atypical presentations. Fourteen different atypical findings were observed including endophthalmitis (0.76%), secondary glaucoma (0.76%), uveitis (0.5%), corneal edema (0.5%), phthisis bulbi (0.5%), orbital cellulitis (0.5%), cataract (0.25%), pseudohypopyon (0.25%), iris nodules (0.25%), hyphema (0.25%), iris neovascularization (0.25%), microphthalmos (0.25%), exposure keratopathy (0.25%), and corneal blood staining (0.25%). All of the patients had Reese-Ellsworth grade V disease. On histopathology, invasion of neighboring structures was seen in 10 patients. All patients underwent enucleation with adjuvant radiotherapy, chemotherapy, or both. CONCLUSIONS: Retinoblastoma can mimic any orbital or ocular pathology. Atypical presentations of retinoblastomas are usually associated with advanced disease. The possibility of ocular tumor should be entertained whenever there is an unusual presentation that is unresponsive to the usual therapy. Ultrasonography and computed tomography should be performed in all such patients, especially if the posterior segment is not visible.
Outcome of eyes with unilateral sporadic retinoblastoma based on the initial external findings by the family and the pediatrician.
PURPOSE: To evaluate the enucleation rate for children with unilateral sporadic retinoblastoma based on initial external findings detected by the family and the pediatrician. PATIENTS AND METHODS: A retrospective, nonrandomized review was performed on 257 consecutive patients with unilateral sporadic retinoblastoma treated at a major ocular oncology center. Data were gathered regarding the initial external clinical finding noted by the family members, pediatrician, and ocular oncologist and then correlated with the final resulted in enucleation in 77%. Specifically, enucleation was necessary in 75% of patients with pediatrician-detected leukocoria, 46% of those with pediatrician-detected strabismus, and 86% of those with pediatrician-detected red eye, heterochromia, decreased visual acuity, or an unspecified eye problem. Enucleation was necessary in 81% of those patients in whom an ocular oncologist detected any external finding such as leukocoria, strabismus, red eye, heterochromia, or buphthalmos and in only 33% of those without external findings. CONCLUSIONS: Children with retinoblastoma who present with obvious external findings of leukocoria, strabismus, or red eye detectable by their family or pediatrician most often require enucleation. Children who manifest no obvious external findings can often avoid enucleation.
Solitary retinal astrocytoma in an infant.
A 5-month-old infant presented with a solitary retinal astrocytoma that clinically and ultrasonographically mimicked retinoblastoma. The diagnosis was established on histopathologic examination. There was no systemic evidence of tuberous sclerosis or neurofibromatosis. Thus, solitary, large, retinal astrocytomas can occur in the absence of any systemic manifestations.
Optical coherence tomography in children: analysis of 44 eyes with intraocular tumors and simulating conditions.
PURPOSE: To investigate the role of optical coherence tomography (OCT) in the evaluation of fundus tumors and simulating lesions in children. PATIENTS AND METHODS: We report the results of a retrospective single-center case series of 44 eyes of 44 children younger than age 18 with fundus lesions who were evaluated with OCT. In comparison, 12 eyes of 12 children with a normal macula were evaluated with OCT. Main outcome measures were cooperation of children while undergoing OCT and correlation of OCT findings with clinical and ultrasonographic findings RESULTS: The OCT was performed without difficulty in all 56 children. Mean patient age was 12 years (median, 12 years; range, 4 to 17 years). The mean horizontal foveal thickness in the 12 normal eyes was 137 microm (median, 132 microm; range, 109 to 185 microm). Clinical diagnoses included retinoblastoma in 10 (23%) eyes, Coats' disease in 4 (9%) eyes, retinal capillary hemangioma in 3 (7%) eyes, astrocytic hamartoma of the retina in 3 (7%) eyes, toxocara granuloma in 2 (5%) eyes, and others. OCT was more sensitive than clinical examination in detection of macular pathology including shallow posterior vitreous detachment, surface wrinkling maculopathy, cystoid and noncystoid macular edema, subfoveal fluid, and retinal thinning. In comparison to ultrasonography, OCT was more sensitive in detection of surface wrinkling maculopathy, macular edema, and subfoveal fluid. Ultrasonography was more sensitive in detection of posterior vitreous detachment. CONCLUSIONS: OCT is a useful and well-tolerated diagnostic modality for macular evaluation in children. It is more sensitive than clinical examination and ultrasonography in the detection of surface wrinkling maculopathy, macular edema, and subfoveal fluid.
Optical coherence tomography in children with retinoblastoma.
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Lack of efficacy of dilated screening for retinoblastoma.
PURPOSE: To assess red reflex testing of the pharmacologically dilated pupil in screening for retinoblastoma. PATIENTS AND METHODS: Children with a family history of retinoblastoma or a history of treated retinoblastoma who were admitted to our institution for examination using anesthesia during a 3-month period underwent red reflex testing of the pharmacologically dilated pupil in a masked fashion. Red reflexes were classified as normal (unremarkable), abnormal (in brightness or color), or absent (no reflex, black pupil). The results of the screenings were later compared with actual retinal findings. RESULTS: Red reflex testing of the dilated pupil failed to identify all 13 eyes that harbored retinoblastoma lesions (all 13 were classified as normal). The 3 eyes that were identified as having abnormal red reflexes had neither disease nor significant refractive error. CONCLUSION: Red reflex testing of the dilated pupil is a poor screening technique for retinoblastoma.
Difficulties in screening for retinoblastoma.
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Retinoblastoma in Taiwan: the effect of a government-sponsored national health insurance program on the treatment and survival of patients with retinoblastoma.
PURPOSE: To assess the effect of a government-sponsored national health insurance program that was implemented in Taiwan in March 1995 on the diagnosis and survival of patients with retinoblastoma. PATIENTS AND METHODS: A retrospective chart review of 108 retinoblastoma patients who were treated at the Chang-Gung Medical Center, Taipei, Taiwan, from 1978 to 2003 was performed. Patients diagnosed and treated before March 1995 were compared with those treated after March 1995 in terms of annual number of cases, gender, laterality, age at onset, presenting signs, treatment modalities, and survival rate. RESULTS: The average annual number of cases doubled from 3.3 to 6.5 after the implementation of the national health insurance program, and the age at diagnosis decreased from 29 to 21 months (P = .03). The most common presenting sign was leukocoria in both groups. The Kaplan-Meier survival rate at 5 years increased from 67% to 72%, an effect that was obvious in unilateral cases (70% to 83%) but not in bilateral cases (50% for both time periods). CONCLUSIONS: The establishment of a government-sponsored national health insurance program in Taiwan allowed retinoblastoma to be diagnosed earlier, resulting in better survival rates, especially in unilateral cases.
Pathological study of retinoblastoma in Mbarara, Uganda.
OBJECTIVE: Histological study of retinoblastoma: cellular differentiation, optic nerve and choroidal involvement. DESIGN: Series of specimens examined in the Pathology laboratory. SETTING: Department of Pathology, Mbarara University Teaching Hospital (MUTH) and Ruharo Eye Centre, Mbarara. SUBJECTS: 32 eye specimens. RESULTS: 31 specimens consisted of poorly differentiated tumours and one specimen had a well differentiated retinoblastoma showing Flexner-Wintersteiner rosettes. Fifteen out of 25 specimens with optic nerves showed both choroid and optic nerve invasion. In 10 eye specimens, the optic nerves and choroid were free of tumour. In the remaining seven specimens, the optic nerves were not submitted with the enucleated specimens and there was no choroidal involvement on histology. CONCLUSION: This review supports findings from previous studies done in Africa which indicated that poorly differentiated retinoblastoma is more common among African children than well differentiated retinoblastoma.
[Asymptomatic vasoproliferative retinal tumor].
PURPOSE/METHOD: A case of vasoproliferative retinal tumor is described. The main differential diagnoses must be excluded and the therapeutic possibilities defined. RESULTS/CONCLUSIONS: Vasoproliferative retinal tumors are infrequent benign retinal lesions of gliovascular composition. The differential diagnoses needing consideration are a retinal hemangioma associated with von Hippel-Lindau disease, an amelanotic choroidal melanoma and an ocular metastasis from a tumor elsewhere. Treatment must be performed in those cases where the sight is threatened.
[Juxtapapillary capillary hemangioma and central serous retinopathy: description of a case with spontaneous resolution].
CASE REPORT: A patient presented with a unilateral decrease of visual acuity and was found to have a juxtapapillary capillary hemangioma by ophthalmoscopy (confirmed by fluorescein angiography) and atrophy in the retinal pigmentary epithelium with leakage points suggesting bilateral central serous retinopathy. Spontaneous resolution of the hemangioma, as well as the central serous retinopathy, subsequently occurred. DISCUSSION: The decrease of visual acuity in a patient with a juxtapapillary capillary hemangioma has been associated with complications from the lesion itself, but an association of central serous retinopathy, as a possible predisposing factor, has not been previously described.
Ultrasonic display of the orbital contents.
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Fetal retinoblastoma.
Fetal tumors are sporadic entities and in some cases can be diagnosed prenatally. A team approach, incorporating the skills of obstetricians, radiation therapists, pediatric medical oncologists and hematologists, neonatal surgeons, rehabilitation specialists, and social workers, is imperative to ensure that the patient receives the best treatment. Retinoblastoma is a relatively uncommon tumor of childhood that arises in the retina. The estimated annual incidence is between 1 in 15,000 and 1 in 34,000. Although it may occur at any age, it most often arises in younger children, with 80% of cases diagnosed before the age of 5 years. We report a case of prenatally diagnosed fetal retinoblastoma.