Visual outcomes in children with bilateral retinoblastoma.

BACKGROUND: Retinoblastoma is the most common primary intraocular tumor of childhood. Although studies have explored trends in retinoblastoma management and prognosis, few have addressed visual outcome. METHODS: A retrospective chart review was performed on children in whom bilateral retinoblastoma was diagnosed at New York Hospital-Cornell Medical College. A total of 74 children were included in the study. All children underwent radiation to the eyes that were studied. Fundus drawings done at the time of diagnosis were evaluated to determine the location of tumors on presentation and the Reese-Ellsworth classification. Visual outcome was classified into 3 groups: group 1 represented visual acuity of 20/20 to 20/40; group 2, 20/50 to 20/400, and group 3, <20/400. RESULTS: A total of 74 children were studied. Forty-six (62%) underwent enucleation of 1 eye. The visual acuity of the remaining 102 eyes was divided into groups 1, 2, and 3. Fifty-eight percent of these eyes were in group 1, 31% in group 2, and 9% in group 3. Two percent underwent subsequent enucleation after treatment. The tumors were analyzed on the basis of Reese-Ellsworth classification, location, size, and distance from the macula. Excluding Reese-Ellsworth group VB, there was no correlation between Reese-Ellsworth classification and final visual outcome. Tumors involving the macula were in 7 (78%) of 9 eyes with poor visual outcome (group 3), and 16 (33%) of 48 eyes with excellent vision (group 1) had macular tumors. Paradoxically, 2 (22%) of 9 eyes in group 3 did not have tumors involving the macula. CONCLUSIONS: Children with retinoblastoma now have an excellent prognosis for life. Although correlated with tumor location, visual outcome is not always easily predicted on the basis of the initial presentation. Final acuity is excellent in most cases but may be influenced by multiple factors that must be considered when caring for these children and families.     

Metachronous tumor development in unilateral retinoblastoma

PURPOSE: A series of 205 retinoblastoma (RB) patients referred to the Department of Ophthalmology at the University of Siena (Italy) was evaluated in order to assess the proportion of unilateral cases later developing tumors in the companion eye ("metachronous" bilateral retinobastoma) (MBRB). METHODS: The total number of unilaterally affected patients developing tumors in the fellow eye was recorded and the risk factors assessed for the development of asynchronous bilateral retinoblastoma, i.e., family history, tumor multifocality and early age at diagnosis. RESULTS: Only two out of 133 (1.5%) unilateral retinoblastoma patients in our series could be considered affected by MBRB. CONCLUSIONS: The incidence of MBRB in our series was negligible (1.5% of all unilateral cases) compared to other reports. None of the reported risk factors for the development of tumors in the fellow eye was relevant in the present series. Although close follow-up of some unilateral cases is still recommended, thorough examination of the fellow eye, to search for lesions in the peripheral retina, is essential in all cases of unilateral RB. MBRB may be a distinctive clinical entity with specific clinical, genetic and prognostic features. However, all these aspects need to be better investigated in larger series.     

Neoadjuvant chemotherapy for extensive unilateral retinoblastoma

AIM: The role of neoadjuvant chemotherapy was studied when first line enucleation cannot be safely performed in unilateral extensive retinoblastoma (major buphthalmia or radiologically detectable optic nerve involvement). METHODS: Six patients, referred for unilateral retinoblastoma, presented with major buphthalmia (two) or optic nerve invasion (four): they were treated by neoadjuvant chemotherapy using etoposide and carboplatin. RESULTS: Good tumour response was observed in the two patients with buphthalmia and in three of four cases with optic nerve involvement. Meningeal progressive disease was observed in the last patient. The five patients without disease progression were then operated on: anterior enucleation in the patients with buphthalmia and enucleation via a double neurosurgical and ophthalmological approach with prechiasmatic optic nerve section in the other three cases. Postoperative chemotherapy was performed in these five patients. Local radiotherapy to the chiasmatic region and posterior part of the optic canal was necessary in only one patient. The non-operated patient died with disease progression 6 months after the diagnosis. The other five patients are alive with a follow up of 12, 15, 21, 36, and 40 months after stopping treatment. CONCLUSION: Neoadjuvant chemotherapy can be useful in extensive unilateral retinoblastoma with buphthalmia and/or radiological optic nerve invasion at diagnosis.     

Problems in the diagnosis and management of unilateral retinoblastoma.

The improved prognosis for life in retinoblastoma challenges us to readdress the severe morbidity associated with late presentation and treatment, particularly in unilateral disease. Three cases of unilateral sporadic retinoblastoma are presented to illustrate the range of therapeutic options that need to be considered in management and to show that early recognition of the tumour and local treatment have the potential to minimise morbidity and to enable binocular vision to be retained.     

Recurrence of unilateral retinoblastoma following radiation therapy

A retrospective analysis of 65 unilateral retinoblastoma patients treated initially with external beam radiation, revealed that 25 eyes (38.5%) developed local recurrence of retinoblastoma. The mean age at diagnosis was 1.8 years for patients who developed recurrences vs. 0.9 years for those who did not. Ninety-six percent of the recurrences occurred less than two years from the age at diagnosis; the amount of time from the end of external beam radiation treatment until a tumor recurred was independent of the age at diagnosis. The initial largest basal diameter was 10·7 DD for tumors which later recurred and 5·9 DD for tumors that were cured. Sixty-nine percent of eyes in groups 111 - v had tumor recurrence, and 10% of eyes in groups 1 -11 had recurrence. All but one eye (24 eyes) that developed recurrence were enucleated. Family history of retinoblastoma, location of the tumor, gender, and laterality did not significantly correlate with the mean age of initial diagnosis for tumors that recurred or the mean time of onset for recurrence.     

Fixation preference for the affected eye in patients with unilateral Duane syndrome.

Duane retraction syndrome is a congenital incomitant strabismus caused by dysinnervation of the medial and lateral rectus muscles. Patients with unilateral Duane syndrome (80-90% of cases) who exhibit a fixation preference tend to prefer the unaffected eye. We describe 8 patients with unilateral Duane syndrome who prefer the affected eye. The most frequent associated ophthalmic finding was decreased vision in the unaffected eye from anisometropia and/or amblyopia. An additional associated finding was decompensated intermittent exotropia in 2 patients.     

Trilateral retinoblastoma: bilateral retinoblastoma with pinealoblastoma

Bilateral retinoblastoma was diagnosed in a 12-month-old boy. The left eye was enucleated; the choroid and the optic nerve were not invaded by the tumour. The right eye had three lesions: one was photocoagulated, and the other two were irradiated. Two years later, symptoms and signs of intracranial hypertension prompted computerized tomography, which demonstrated a mass in the pineal region and secondary hydrocephalus. The right eye showed papilledema but no evidence of tumour activity in the three retinal scars. Radiation therapy and chemotherapy had only a transient effect, and the child died at 42 months of age. At autopsy the pineal region and the third ventricle were found to be replaced by a pinealoblastoma with retinomatous differentiation. Only 11 other cases of pinealoblastoma associated with bilateral (heritable) retinoblastoma have been reported. The embryologic relationship between the pineal gland and the retina has given rise to the concept of trilateral retinoblastoma, a concept important in the investigation and follow-up of patients with bilateral retinoblastoma.     

视网膜母细胞瘤患儿家长心理状况调查

目的调查视网膜母细胞瘤（retinoblastoma,RB）患儿家长的心理健康状况。方法采用国际通用的焦虑自评量表和抑郁自评量表对121名患儿家长进行问卷调查,以国内常模作为对照。采用SAS 8.0统计软件对数据进行t检验和方差分析。结果 RB患儿家长的焦虑标准分（53.80±10.42）和抑郁标准分（58.90±10.89）均高于国内常模（P均〈0.0001）。双眼RB患儿家长的焦虑标准分（58.19±10.57）和抑郁标准分（62.46±11.84）明显高于单眼RB组（焦虑和抑郁值分别为51.73±9.77,57.22±10.09,P值分别为0.0083,0.0423）。患儿所处的治疗阶段不同,家长文化程度不同,家庭经济状况不同,家长的焦虑和抑郁程度也不同。结论 RB患儿家长的焦虑、抑郁水平明显高于国内正常人群,提示对RB患儿家长进行心理疏导的必要性。     

Comparison of orbital volumes in enucleated patients with unilateral retinoblastoma: hydroxyapatite implants versus silicone implants

PURPOSE: To compare the difference in volume between enucleated and contralateral, uninvolved orbits in patients with unilateral retinoblastoma treated with primary enucleation who received either hydroxyapatite or solid silicone implants. METHODS: In this retrospective, comparative interventional case series, data were reviewed for all patients (N = 33) with retinoblastoma at St. Jude Children's Research Hospital who underwent unilateral enucleation and received either hydroxyapatite or solid silicone implant from 1969 to 1999. Patients who received external beam radiation or systemic chemotherapy were excluded. CT and/or MRI were used to compare the difference in orbital volumes between the enucleated orbit and the contralateral orbit in 13 patients who underwent enucleation with hydroxyapatite implants vs. 20 patients who underwent enucleation with silicone implants. The main outcome measure was the difference in volume between enucleated and contralateral, uninvolved orbits correlated to implant material, which we determined using the Wilcoxon rank sum test. RESULTS: The median difference in orbital volumes between enucleated and contralateral, uninvolved orbits was 0.9 cm (range, -3.78 to 3.09 cm; quartiles, -0.37, 2.72 cm; mean +/- standard error [SE], 0.76 +/- 0.64 cm; 95% confidence interval [CI], -0.49 to 2.01 cm) for patients treated with hydroxyapatite implants vs. 0.63 cm (range, -4.43 to 3.91 cm; quartiles, 0, 2.13 cm; mean +/- SE, 0.8 +/- 0.41 cm; 95% CI, -0.004 to 1.6 cm) in patients treated with silicone sphere implants. The median differences did not differ between the 2 types of implant (p = .74). The median follow-up time was 137 months (range, 10-244 months; quartiles, 37, 179 months; mean +/- SE = 118.31 +/- 22.83 months; 95% CI, 73.56-163.06 months) and 144 months (range, 57-251 months; quartiles, 98, 154 months; mean +/- SE, 136.1 +/- 10.78 months; 95% CI, 114.97-157.23 months), respectively. CONCLUSIONS: In unilateral retinoblastoma patients treated with primary enucleation, hydroxyapatite-integrated orbital implants provide no better symmetry of orbital volume than do more traditional silicone implants.     

Problems in the diagnosis and management of unilateral retinoblastoma

The improved prognosis for life in retinobiastoma challenges us to readdress the severe morbidity associated with late presentation and treatment, particularly in unilateral disease. Three cases of unilateral sporadic retinoblastoma are presented to illustrate the range of therapeutic options that need to be considered in management and to show that early recognition of the tumour and local treatment have the potential to minimise morbidity and to enable binocular vision to be retained.     

Familial pericentric inversion of chromosome 11 in a child with sporadic unilateral retinoblastoma

The authors treated a 12-month-old Japanese boy with sporadic unilateral retinoblastoma and hereditary chromosomal inversion inv(ll)(pllq23). This chromosomal inversion was also present in the father of the boy. Cytogenetic analyses of the mother and sister were normal. Retinoblastoma is associated with constitutional deletion of the long arm of chromosome 13. The breakpoint in the chromosome 11q23 region is involved in several malignant hematological diseases, and may be important in malignant transformation. Therefore, a large number of such patients with pericentric inversion of chromosome 11 has to be identified before significance of this chromosomal abnormality can be determined.     

Neurofibromatosis associated with retinoblastoma: case report.

A case of neurofibromatosis is presented in a 3-year-old male with leucokoria in his left eye. Enucleation was performed, and on pathological examination the mass filling the globe proved to be retinoblastoma. We believe ours to be the first reported case of this rare association.