Hemoglobinopathies are a group of inherited disorders characterized by quanti tative or qualitative malformations of hemoglobin (Hb). Some of these diseases present vasoocclusive phenomena that are responsible for high morbidity in clinical and/or ophthalmologic terms. Diagnosis of hemoglobinopathies is perfor med exclusively through hemoglobin electrophoresis. From the ophthalmologic perspective, the most important representative of this group of diseases is sickle cell retinopathy, which presents a wide spectrum of fundus manifestations and may even lead to irreversible vision loss if not properly diagnosed and treated. The aim of this review is to present the classification of sickle cell retinopathy and to describe current management and future perspectives for its treatment, taking into consideration the clinical management of these patients.

Fundus changes in sickle cell disease are well studied and documented according to their clinical and angiographic aspects. Sickle cell retinopathy was studied in a Brazilian population of 63 patients (41 with SS hemoglobinopathy, and 22 with SC hemoglobinopathy). All ophthalmoscopic changes observed in our patients were more frequent in the SC group with the exception of atrophic retinal tears, found only in the SS group. Proliferative retinopathy including its complications was seen in 54.54% of the eyes of the SC group, and in only 14.64% of the eyes of the SS group. Decreased vision is consequently greater in the SC group. Despite the great frequency of funduscopic changes in both groups, only 1 patient suffered irreversible visual loss due to retinal detachment operated on without success.

OBJECTIVE: To present the characteristics and treatment outcomes of patients with retinoblastoma. METHODS: A retrospective case series was conducted to review the records of all new patients diagnosed with retinoblastoma between 2003 and 2005. Eyes with early disease, or advanced disease with potential vision were treated with chemotherapy (carboplatin and etoposide) in conjunction with early local therapy (laser or cryo). Radiotherapy was used in cases where the disease did not respond to the above protocols or in recurrent cases. Eyes in the late stage of disease with no potential vision in the initial examination or eyes and where conservative treatment had failed were enucleated. RESULTS: In total, we reviewed 28 new cases of retinoblastoma, 15 of which were unilateral and 13 of which were bilateral (46%). These data correspond to a mean of 9.3 new cases per year (0.77 case/ month). The mean age at diagnosis was 33.8 months for unilateral cases, and 19.15 months for bilateral cases (p=0.015). Leucocoria was the major presenting symptom (75%). All but one patient with unilateral disease had the affected eye enucleated due to advanced disease (mean follow-up: 39.91 months). Among the 13 bilateral cases, 13 eyes (50%) were enucleated, 11 eyes (42.4%) were saved with chemotherapy in conjunction with local therapy and 2 eyes (7.6%) were saved using external beam radiotherapy (mean follow-up: 41.91 months). In unilateral and bilateral disease, pathology data revealed choroid involvement in 50% and 30%, respectively, and optic nerve invasion in 92% and 50%, respectively. CONCLUSION: In this population, retinoblastoma was diagnosed too late and most eyes were consequently enucleated. In cases with bilateral disease, half of the eyes were preserved

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OBJECTIVE:To analyze the flow of retrobulbar vessels in retinoblastoma by color Doppler imaging.METHODS:A prospective study of monocular retinoblastoma treated by enucleation between 2010 and 2014. The examination comprised fundoscopy, magnetic resonance imaging, ultrasonography and color Doppler imaging. The peak blood velocities in the central retinal artery and central retinal vein of tumor-containing eyes (tuCRAv and tuCRVv, respectively) were assessed. The velocities were compared with those for normal eyes (nlCRAv and nlCRVv) and correlated with clinical and pathological findings. Tumor dimensions in the pathological sections were compared with those in magnetic resonance imaging and ultrasonography and were correlated with tuCRAv and tuCRVv. In tumor-containing eyes, the resistivity index in the central retinal artery and the pulse index in the central retinal vein were studied in relation to all variables.RESULTS:Eighteen patients were included. Comparisons between tuCRAv and nlCRAv and between tuCRVv and nlCRVv revealed higher velocities in tumor-containing eyes (p<0.001 for both), with a greater effect in the central retinal artery than in the central retinal vein (p=0.024). Magnetic resonance imaging and ultrasonography measurements were as reliable as pathology assessments (p=0.675 and p=0.375, respectively). A positive relationship was found between tuCRAv and the tumor volume (p=0.027). The pulse index in the central retinal vein was lower in male patients (p=0.017) and in eyes with optic nerve invasion (p=0.0088).CONCLUSIONS:TuCRAv and tuCRVv are higher in tumor-containing eyes than in normal eyes. Magnetic resonance imaging and ultrasonography measurements are reliable. The tumor volume is correlated with a higher tuCRAv and a reduced pulse in the central retinal vein is correlated with male sex and optic nerve invasion.

We describe the case of a 9-month old boy with unilateral retinoblastoma and bulftalmo. Primary enucleation was the treatment of choice due to the lack of visual prognosis. The histology of the enucleated eye showed massive choroidal invasion by the tumor and the optic nerve free of neoplastic tissue. Therefore, no adjuvant chemotherapy or radiotherapy was indicated. Three months after the enucleation, the patient returned with massive orbital retinoblastoma with exposure of the conjunctiva. Treated with chemotherapy, the patient has been in remission for 12 months. The risk factors for orbital recurrence are discussed.

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