Maria Teresa Brizzi Chizzotti Bonanomi

Sickle cell retinopathy: diagnosis and treatment

Hemoglobinopathies are a group of inherited disorders characterized by quantitative or qualitative malformations of hemoglobin (Hb). Some of these diseases present vaso-occlusive phenomena that are responsible for high morbidity in clinical and/or ophthalmologic terms. Diagnosis of hemoglobinopathies is performed 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.

Retinoblastoma: a three-year-study at a Brazilian medical school hospital

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.

Intravitreal triamcinolone acetonide as adjunctive treatment for neovascular glaucoma

A 70-year-old caucasian diabetic woman presented withpoor vision in both eyes in September, 2003. Her past ocu-lar history comprised cataract surgery and laser photoco-agulation in both eyes for diabetic retinopathy and in theright eye for associated venous occlusion. The diabetes andthe high blood pressure were poorly controlled, and creati-nine clearance and HbA1c were 60 mL/min and 15%, re-spectively. Her visual acuity was counting fingers in theright eye (RE) and 20/200 in the left eye (LE). Theintraocular pressure (IOP) was 13 mm Hg in the RE and 14mm Hg in the LE. The fundus showed bilateral panretinalphotocoagulation (PRP) and clinically significant macularedema but no retinal neovascularization (Fig.1). Anintravitreal triamcinolone injection was proposed initiallyfor the right eye. An intravitreal injection of 4 mg (0.1 mL)triamcinolone acetonide (Kenalog-40, Apothecon,Princeton, NJ) was performed through the pars plana. Afterthe procedure (October 17, 2003), her vision did not im-prove despite the partial drying of the macula, and theintraocular pressure ranged from 12 to18 mm Hg up to Feb-ruary 25, 2004. The LE was treated only with extra periph-eral and macular photocoagulation. On March 10, 2004, thepatient returned with a severe pain in the RE associatedwith nausea. Iris neovascularization, cornea edema withpoorly visible fundus, and an IOP of 54 mm Hg was de-tected. A second intravitreal injection of 4 mg triamci-nolone was given on that day, along with transconjunctivalcryotherapy in the peripheral retina (5 applications perquadrant). The medical treatment comprised 0.5% timololmaleate and 1% atropine locally and oral acetazolamide.After 2 days, the patient returned with no pain, an IOP of

Obstrução arterial retiniana periférica associada com hiper-homocisteinemia: relato de caso

Hyperhomocysteinemia is a risk factor for thromboembolic events of the retina associated with vascular venous or arterial occlusion. We describe a patient with occlusion of the peripheral arteriolar network without active vasculitis, associated with neovascular proliferation, peripheral vitreous-retinal traction and relapsing vitreous hemorrhage. The high serum homocysteine level resulting from vitamin B12 and folic acid deficiency, without further changes in the coagulation cascade including the test for Leidens Factor V, indicates hyperhomocysteinemia as a direct causal factor in this clinical condition. Despite a high PPD, Eales Disease, a major differential diagnosis, was not fully considered, since it is established by exclusion. The patient was treated with photocoagulation and vitamin supplements and the condition was successfully controlled. Patients with retinal vascular obstruction should have their total plasma homocysteine levels measured, since this modifiable risk factor can be easily treated with dietary approaches including vitamin supplementation.

Orbital retinoblastoma: case report.

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.

Blood flow velocity in monocular retinoblastoma assessed by color doppler

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.

Descolamento regmatogênico de retina: avaliação pós-operatória da mácula

PURPOSE To evaluate the structure and function of the macula following rhegmatogenous retinal detachment surgery. METHODS Prospective study of patients submitted to scleral buckle surgery or pneumatic retinopexy. The follow-up comprised a complete ophthalmologic exam and optical coherence tomography. RESULTS The sample was composed of 14 eyes (14 patients), 71.4% operated with the scleral buckle technique, and 28.6% with the pneumatic retinopexy. The age range was from 24 to 59 years (mean of 39.3 years). There was a negative correlation between the final visual acuity and age of patient (r=-0.64, p=0.0127) and between final vision and duration of detachment (r=-0.54, p=0.0447). There was a positive correlation between visual acuity at initial follow-up and that at the final follow-up (r=0.69, p=0.0059). The optical coherence tomography of the initial follow-up showed subclinical foveal detachment in four eyes (28.6% of cases); at the final follow-up the retina was applied by itself with improved vision in all eyes (p=0.031), regardless the time span until reapplication (p=0.5546). CONCLUSION The results show that the younger the patient and the earlier the surgical procedure, the better the final visual acuity. Furthermore, there is a positive correlation between initial and final postoperative vision and, all cases that presented foveal detachment on the optical coherence tomography at the initial follow-up had the retina flattened and the vision improved at the final examination.

Ki-67 cell proliferation in familial and in esporadic unilateral retinoblastoma: case report

PURPOSE Ki-67 is a nuclear protein that is expressed at all phases of the cell cycle except the resting phase. This study is a clinicopathologic observational case report that aims to report on the cell proliferation rates, as measured by the Ki-67 antigen, in two enucleated retinoblastoma eyes. METHODS One unilateral familial (mother with unilateral disease - patient 1) and one unilateral sporadic retinoblastoma (patient 2) patients were submitted to enucleation without previous treatment. The tumor cell proliferation rate was assessed by the Ki-67 antigen labeling index (stained cells / 100 cells) in five different fields of the tumor. RESULTS Patient 1 was 23 months old and the tumor was exophytic with associated neovascularization of the iris; patient 2 was 6 years old and the tumor was endophytic with coarse vitreous seeds. Both enucleated eyes presented optic nerve with free surgical margins. Positive Ki-67 cell index in patient 1 varied from 75 to 90 (MD +/- SD: 79.5 +/- 6.61) and in patient 2 from 38 to 60 (MD +/- SD: 46.6 +/- 8.2). CONCLUSIONS The familial retinoblastoma, besides the earlier age presentation, showed 45.8% more Ki-67 positive cells than the same stage sporadic one. This proliferation rate may explain the earlier presentation age of the tumor in the inherited disease.

Descolamento viteliforme macular associado a drusas da lâmina basal: relato de caso

The vitelliform macular lesion is usually observed in Bests disease and the adult type of foveomacular dystrophy. We describe a rare case of macular vitelliform lesion in association with basal laminar drusen. The patient has been followed at the Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo for the last four years. The differential diagnosis, clinical evolution, pathogenesis and treatment of this rare condition are discussed.