Mary Ellen Hoehn

Protection from sickle cell retinopathy is associated with elevated HbF levels and hydroxycarbamide use in children.

Elevated foetal haemoglobin (HbF) levels are protective against some manifestations of sickle cell anaemia but the impact on retinopathy is unknown. We report on 123 children with HbSS, 10·6% of whom developed retinopathy. Independent of hydroxycarbamide, children with a HbF <15% had 7·1‐fold (95% confidence interval, 1·5–33·6) higher odds of developing retinopathy. In children treated with hydroxycarbamide, those with retinopathy had lower HbF levels compared to children without retinopathy (9% vs. 16%; P = 0·005). We report a protective benefit of elevated HbF regarding retinopathy, and our data suggests induction of HbF with hydroxycarbamide may prevent retinopathy in children.

Outcomes after cataract extraction in young children with radiation-induced cataracts and retinoblastoma

BACKGROUND An expected side effect of external beam radiation therapy for retinoblastoma is cataract formation, which impairs a childs visual development and an ophthalmologists ability to examine the eye. When surgery is indicated, the potential complications can be vision-or life-threatening. Here we report the results of cataract extraction with intraocular lens placement in young children with retinoblastoma. METHODS A retrospective chart review of all patients at St. Judes Childrens Research Hospital who had undergone external beam radiation therapy for retinoblastoma during a 25-year period was performed. Patients who required cataract extraction with IOL placement were included. Preoperative and postoperative visual acuity and ocular complications were recorded. RESULTS The chart review identified 40 patients (53 eyes) with cataracts, of whom 15 (19 eyes) had surgery. Of the 19 eyes, 2 (10.5%) developed a vitreous hemorrhage (one of which was subsequently enucleated secondary to phthisis, whereas the other resolved without further complications). A total of 12 eyes (63.2%) required Nd:YAG laser capsulotomies (mean, 3.6 months; range, 1-7 months). None developed recurrence or spread of disease. Thirteen eyes (68.4%) had improved visual acuity after cataract extraction and intraocular lens placement, 4 of which (30.8%) subsequently lost vision as the result of other complications of retinoblastoma treatment. Visual acuity outcomes were 20/20 to 20/60 in 3 eyes (15.8%); 20/70 to 20/200 in 4 (21.1%); and 20/400 or less in 10 (52.6%). One patient (5.2%) required enucleation. CONCLUSIONS Patients who underwent cataract extraction after treatment for retinoblastoma had few postoperative adverse outcomes, and visual acuity improved in most patients immediately after surgery. However, some patients who showed initial improvement subsequently lost vision as the result of other complications from retinoblastoma treatment.

Ocular Salvage and Vision Preservation Using a Topotecan-Based Regimen for Advanced Intraocular Retinoblastoma

Purpose To evaluate topotecan-based therapy for advanced intraocular retinoblastoma. Patients and Methods Twenty-seven patients with bilateral retinoblastoma (male patients, n = 14; median age, 8.4 months) received chemotherapy: two courses of topotecan plus vincristine followed by three alternating administrations of carboplatin and vincristine for two courses and topotecan plus vincristine for one course, with optional periocular carboplatin. Focal therapy was applied after cycle 2. Event-free survival was defined as avoidance of external-beam radiotherapy (EBRT) and enucleation. Results Of 54 eyes, 42 were Reese-Ellsworth group IV to V, and 37 were International Classification of Retinoblastoma group C to E. Eleven eyes were enucleated: one at diagnosis, nine with progressive disease including three eyes treated with EBRT, and one that developed neovascular glaucoma after completion of therapy. One patient was removed from protocol with prolonged infection in course 1; 26 patients (51 eyes) were analyzed. At 10 years, cumulative incidence of EBRT was 5.9% (SE ± 3), and event-free survival was 69.2% (SE ± 27.2). Ocular survival for Reese-Ellsworth group IV to V eyes was 77.5% (SE ± 21.2); it was 74.3% (SE ≥ 18.8) for International Classification group C to E eyes. Vision testing (median age, 7 years; range, 5 to 10 years) documented 20/70 vision or better in one eye of 23 patients; 19 (76%) of 25 patients demonstrated 20/40 vision or better in one eye. All patients experienced thrombocytopenia (41 episodes in 275 courses; 15%). There were 29 episodes of febrile neutropenia (10%). Grade 3 diarrhea was present in nine of 27 patients, and one patient had an allergic reaction to carboplatin. All patients are alive at median follow-up 7.4 years (range, 2.7 to 10 years). Conclusion Topotecan combined with vincristine, carboplatin, and aggressive focal therapies is an effective regimen for the treatment of advanced retinoblastoma and results in globe salvage with vision. Toxicities were anticipated and managed with appropriate supportive care.

Ocular involvement after subgaleal hematoma.

Subgaleal hemorrhage (SGH) is a known complication of both major and minor childhood head trauma. Rarely, it can be associated with intraorbital hemorrhage and ocular compromise. We report a child who presented with SGH and later developed orbital hemorrhages bilaterally with loss of vision necessitating surgical intervention. We also review the literature for this condition.

Orbital Metastasis Is Associated With Decreased Survival in Stage M Neuroblastoma.

Approximately 30% of patients with metastatic (stage M) neuroblastoma present with periorbital ecchymosis from orbital osseous disease. Though locoregional disease is staged by imaging, the prognostic significance of metastatic site in stage M disease is unknown. We hypothesize that, compared to nonorbital metastasis, orbital metastasis is associated with decreased survival in patients with stage M neuroblastoma, and that periorbital ecchymosis reflects location and extent of orbital disease.

Pituitary adenoma causing visual disturbances in a 6-year-old girl.

Pituitary adenomas rarely occur in young children, typically present with systemic symptoms, and rarely undergo malignant transformation. We report a 4-year-old girl who presented with visual disturbances initially diagnosed and treated as amblyopia. She subsequently developed headaches and a gait disturbance and was discovered to have a large, suprasellar, nonsecreting pituitary adenoma. The tumor was resected, but 22 months later she developed recurrence with malignant transformation.

Hematologic Disorders of the Eye

Hematological disease may affect the eye in many ways. In this chapter we will focus on two of the most common hematologic diseases with ocular complications.

Persistent binocular diplopia in childhood following successful treatment for esotropia: a case series.

Introduction Diplopia is rare in children with nonpathological esotropia because facultative suppression develops prior to visual maturation. Our aim is to present five cases of children with binocular diplopia following treatment of childhood esotropia, exploring possible mechanisms for the development of diplopia based upon the patients history and findings, and discussing treatment for diplopia in this setting. Methods A retrospective chart review of five sequential patients presenting with binocular diplopia following treatment of esotropia was performed. Treatment of esotropia included correction of hyperopic error, correction of anisometropic amblyopia to 20/30 or better, and strabismus surgery as indicated. Results Diplopia developed in two children with accommodative esotropia, one child with infantile esotropia and partially accommodative esotropia, and two children with a history of infantile esotropia and consecutive exotropia following surgical correction. Diplopia onset occurred between ages 7 and 11. Four of the five children experienced resolution of diplopia with prism glasses. Conclusion Children with esotropia before visual maturation may develop persistent diplopia. Clinical features of the children with diplopia in our case series include poor fusion, poor stereopsis, consecutive exotropia, refractive changes, onset of diplopia after 7 years of age, and occlusion therapy for amblyopia. Prisms may be beneficial in controlling the diplopia.