Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.

IMPORTANCE: Monitoring young children with optic pathway gliomas (OPGs) for visual deterioration can be difficult owing to age-related noncompliance. Optical coherence tomography (OCT) measures of retinal nerve fiber layer (RNFL) thickness have been proposed as a surrogate marker of vision but this technique is also limited by patient cooperation. OBJECTIVE: To determine whether measures of circumpapillary RNFL thickness, acquired with handheld OCT (HH-OCT) during sedation, can differentiate between young children with and without vision loss from OPGs. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional analysis of a prospective observational study was conducted at a tertiary-care children's hospital. Children with an OPG (sporadic or secondary to neurofibromatosis type 1) who were cooperative for visual acuity testing, but required sedation to complete magnetic resonance imaging, underwent HH-OCT imaging of the circumpapillary RNFL while sedated. MAIN OUTCOMES AND MEASURES: Area under the curve of the receiver operating characteristic, sensitivity, specificity, positive predictive value, and negative predictive value of the average and quadrant-specific RNFL thicknesses. RESULTS: Thirty-three children (64 eyes) met inclusion criteria (median age, 4.8 years; range, 1.8-12.6 years). In children with vision loss (abnormal visual acuity and/or visual field), RNFL thickness was decreased in all quadrants compared with the normal-vision group (P < .001 for all comparisons). Using abnormal criteria of less than 5% and less than 1%, the area under the curve was highest for the average RNFL thickness (0.96 and 0.97, respectively) compared with specific anatomic quadrants. The highest discrimination and predictive values were demonstrated for participants with 2 or more quadrants meeting less than 5% (sensitivity = 93.3; specificity = 97.9; positive predictive value = 93.3; and negative predictive value = 97.9) and less than 1% (sensitivity = 93.3; specificity = 100; positive predictive value = 100; and negative predictive value = 98.0) criteria. CONCLUSIONS AND RELEVANCE: Measures of RNFL thickness acquired with HH-OCT during sedation can differentiate between young children with and without vision loss from OPGs. For young children who do not cooperate with vision testing, HH-OCT measures may be a surrogate marker of vision. Longitudinal studies are needed to delineate the temporal relationship between RNFL decline and vision loss.

Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.

PURPOSE: To describe the visual outcomes and volumetric magnetic resonance imaging (3D MRI) in children with neurofibromatosis type 1 (NF1) and orbitotemporal plexiform neurofibromas. DESIGN: Multicenter retrospective case series. METHODS: Two institutions with dedicated NF1 clinical research programs queried their established clinical databases for children with orbitotemporal plexiform neurofibromas. Visual acuity, refractive error, ambylopia, and treatment history were abstracted. Extent of orbitotemporal plexiform neurofibroma involvement was assessed clinically and with 3D MRI analysis. Children with optic pathway gliomas or ocular causes of decreased visual acuity (ie, cataracts, glaucoma) other than strabismus or anisometropia were excluded. RESULTS: Twenty-one children met inclusion criteria (median age 8 years, range 0.33-23 years). Orbitotemporal plexiform neurofibroma location was classified as isolated eyelid (n = 6), eyelid and orbit (n = 7), orbit and temporal region (n = 7), or diffuse orbit (n = 1). Three subjects had bilateral orbital involvement. Amblyopia secondary to the orbitotemporal plexiform neurofibroma was present in 13 subjects (62%) and was caused by strabismus (n = 2, 10%), occlusion from ptosis (n = 9, 43%), or anisometropia (n = 9, 43%), or a combination of factors (n = 6, 29%). MRI-derived volumes were measured in 19 subjects (median 41.8 mL, range 2.7-754 mL). All subjects with amblyopia had orbitotemporal plexiform neurofibroma volumes greater than 10 mL. CONCLUSION: In our series, amblyopia occurs in more than half of NF1 children with orbitotemporal plexiform neurofibromas, most commonly because of ptosis and anisometropia. The 3D MRI analysis allowed for sensitive measurement of orbitotemporal plexiform neurofibroma size, and larger volumes were associated with development of amblyopia.

Rifabutin-associated hypopyon uveitis and retinal vasculitis with a history of acute myeloid leukemia.

PURPOSE: This study reports a case of bilateral rifabutin-associated uveitis in a child with a history of acute myeloid leukemia. METHODS: We utilized a clinical case description and brief discussion. RESULTS: A 17-year-old girl presented with acute bilateral anterior uveitis, a hypopyon in the left eye, and moderate bilateral vitritis. She had a history of acute myeloid leukemia status post-allogeneic hematopoietic stem cell transplant 5 years earlier. She was receiving rifabutin for a biopsy-proven Mycobacterium avium complex pulmonary infection. Work up for infectious and neoplastic etiologies was negative. The uveitis initially responded to topical corticosteroids, but recurred when the drops were tapered. Fluorescein angiography demonstrated diffuse vasculitis of small retinal vessels and cystoid macular edema. After rifabutin was discontinued, the uveitis and vasculitis slowly resolved. CONCLUSION: Fluorescein angiography demonstrated widespread retinal vasculitis which is a rare manifestation of rifabutin-associated uveitis.

Pediatric sickle cell retinopathy: correlation with clinical factors.

BACKGROUND: Sickle cell disease (SCD) occurs in 1 of every 500 African American births and 1 of every 36,000 Hispanic American births. Of children with SCD, 16.7% to 96.3% develop sickle retinopathy (SR). This study was designed to determine whether certain factors are associated with SR and whether SR is correlated with a greater incidence of other SCD manifestations. METHODS: A retrospective analysis was performed of 258 children with SCD seen in the ophthalmology clinic at a large urban children's hospital. Of these, 54 children with SR were matched for age and sickle variant with 54 children with normal examinations. Data extracted included demographics, type of retinopathy, presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and history of acute chest syndrome, transfusions, pulmonary hypertension, renal disease, cerebrovascular accident, aplastic crisis, splenic sequestration, priapism, osteonecrosis, gallstones, pneumonia, leg ulcers, vaso-occlusive pain crises, and death. RESULTS: Of the children with SR, 11 (20.3%) had active proliferative disease, 32 (56.1%) had hemoglobin SS, 18 (31.6%) had hemoglobin SC, and 4 (7.0%) had hemoglobin S-beta thalassemia. Several factors were correlated with retinopathy: pain crisis (odds ratio [OR], 5.00; p=0.011), male sex (OR, 4.20, p=0.004), and splenic sequestration (OR, 4.00; p=0.013). G6PD deficiency was more common in patients with retinopathy, although this was not statistically significant (OR, 4.20; p=0.054). No other factors, including frequency of pain crisis, were statistically significant. CONCLUSIONS: Patients with pain crisis and splenic sequestration should be considered for early ophthalmic evaluation. Those with G6PD deficiency may also deserve early screening. By identifying patients at high risk for SR, we can refine screening protocols to safeguard patients from vision loss.

Magnetic resonance imaging in the analysis of pediatric orbital tumors: utility of diffusion-weighted imaging.

PURPOSE: To identify common radiographic features of pediatric orbital tumors by the use of magnetic resonance imaging (MRI) techniques, diffusion-weighted imaging (DWI), fat saturated T2, and pre- and postgadolinium T1. DWI is hypothesized to help identify and predict the malignancy of specific brain tumors. To our knowledge, a similar analysis in which the authors have used this combination of MRI techniques has not been performed with orbital tumors. METHODS: We performed a retrospective chart review of all patients younger than 18 years of age, each diagnosed with an orbital mass lesion, imaged by MRI from 2005 to 2008. The MR images were analyzed by use of the aforementioned techniques. RESULTS: Mass lesions identified in the chart review included rhabdomyosarcoma (n = 4), myofibroma (n = 2), hemangioma (n = 4), lymphangioma (n = 2), neurofibroma (n = 4), Langerhans histiocytosis (n = 2), and one of each of the following: giant cell tumor, meningioma, lymphoid hyperplasia of the lacrimal gland (chronic sclerosing sialadenitis), optic nerve glioma, lipodermoid, and dermoid. DWI was used to differentiate tumors into those with increased diffusion, restricted diffusion, and a mixed diffusion pattern. Capillary hemangiomas and rhabdomyosarcomas 2 tumors with potentially overlapping appearances with traditional MRI techniques had contrasting appearances with DNI. CONCLUSIONS: DWI can help to distinguish among certain pediatric orbital tumors when combined with traditional MRI techniques. This technique may thus be considered an additional tool to help, refine the differential diagnosis of orbital tumors in children.

Advances in evaluation and management of pediatric idiopathic intracranial hypertension.

PURPOSE OF REVIEW: Although the demographics of pediatric idiopathic intracranial hypertension have been well described, the best approaches to its management are less well defined. Recent advances in evaluation of optic nerve status make it easier to determine when and if more aggressive intervention is required. Medical and surgical approaches are discussed. RECENT FINDINGS: Modern neuroimaging techniques are used to look for secondary causes of intracranial hypertension such as cerebral venous sinus thrombosis. Automated perimetry is now quicker to perform and is accepted as the gold standard in evaluating optic nerve defects, even in the pediatric population. Other newer techniques for assessing optic nerve injury include optical coherence tomography, laser scanning tomography, and spectral Doppler blood flow analysis of the optic nerve head. Medical management remains the first-line treatment, but increasingly, surgical interventions such as optic nerve sheath fenestration and cerebrospinal fluid shunting are used in the pediatric population. SUMMARY: Pediatric intracranial hypertension patients may be followed with a greater degree of precision than in the past. Management tends to be similar to that used in adults, now including surgical intervention when indicated. The newer technologies allow us to gather data that may help to determine the optimal time for surgical intervention for those patients who require it.

Optical coherence tomography applications in pediatric ophthalmology.

In pediatric ophthalmology, test results may be limited by a child's ability to cooperate. Invasive and contact methods such as applanation tonometry, ultrasound biometry, and pachymetry are sometimes difficult to perform. Optical coherence tomography (OCT) has become a widely used noncontact method to obtain cross-sections of various ocular structures. In this review, we describe the principles and clinical applications of OCT, with special attention to pediatric ophthalmology.

Application of new ophthalmic technology in the pediatric patient.

PURPOSE OF REVIEW: The present review will summarize briefly the recent advances in diagnostic tools, surgical techniques, and ophthalmic medications as they relate to the pediatric patient. The review will highlight results from studies that have investigated these new technologies and techniques. RECENT FINDINGS: In the past several years there has been a plethora of literature on the application of new technologies and surgical techniques in children. New tools have been used for everything from gathering normative data about the pediatric eye to using the technologies to study diseases such as glaucoma and ocular tumors. Results of surgical techniques such as small-incision cataract surgery, sutureless vitrectomy, and refractive surgery are now reported with regularity in the pediatric ophthalmology literature. SUMMARY: In the past 10 years pediatric ophthalmology has made significant advances. Technology has enabled us to qualify and quantify disease states more efficiently, and to explore new surgical techniques for disease processes that were formerly considered relatively untreatable.

Steroid-induced glaucoma in an infant.

A 3-week-old infant developed buphthalmos and glaucoma after a 1-week course of topical steroid drops. The glaucoma resolved after cessation of the medication. This report underscores the sensitivity of infants and very young children to steroid-related intraocular pressure rises.

Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.

PURPOSE: Retinopathy of prematurity (ROP) is a leading cause of visual loss in the pediatric population. Mutations in the Norrie disease gene (NDP) are associated with heritable retinal vascular disorders, and have been found in a small subset of patients with severe retinopathy of prematurity. Varying rates of progression to threshold disease in different races may have a genetic basis, as recent studies suggest that the incidence of NDP mutations may vary in different groups. African Americans, for example, are less likely to develop severe degrees of ROP. We screened a large cohort of ethnically diverse patients for mutations in the entire NDP. METHODS: A total of 143 subjects of different ethnic backgrounds were enrolled in the study. Fifty-four patients had severe ROP (Stage 3 or worse). Of these, 38 were threshold in at least one eye (with a mean gestational age of 26.1 weeks and mean birth weight of 788.4 g). There were 36 patients with mild or no ROP, 31 parents with no history of retinal disease or prematurity, and 22 wild type (normal) controls. There were 70 African American subjects, 55 Caucasians, and 18 of other races. Severe ROP was noted in 29 African American subjects, 17 Caucasians, and 8 of other races. Seven polymerase chain reaction primer pairs spanning the NDP were optimized for denaturing high performance liquid chromatography and direct sequencing. Three primer pairs covered the coding region, and the remaining four spanned the 3' and 5' untranslated regions (UTR). RESULTS: Six of 54 (11%) infants with severe ROP had polymorphisms in the NDP. Five of the infants were African American, and one was Caucasian. Two parents were heterozygous for the same polymorphism as their child. One parent-child pair had a single base pair (bp) insertion in the 3' UTR region. Another parent-child pair had two mutations: a 14 bp deletion in the 5' UTR region of exon 1 and a single nucleotide polymorphism in the 5' UTR region of exon 2. No coding region sequence changes were found. No polymorphisms were observed in infants with mild or no ROP, or in the wild type controls. CONCLUSIONS: Of the six sequence alterations found, five were novel nucleotide changes: One in the 5' UTR region of exon 2, and four in the 3' UTR region of exon 3. The extent of NDP polymorphisms in this large, racially diverse group of infants is moderate. NDP polymorphisms may play a role in the pathogenesis of ROP, but do not appear to be a major causative factor.

Childhood esotropia.

PURPOSE: To review the most recent studies on childhood esotropia, and to summarize recent changes in treatment approach. RECENT FINDINGS: Constant, large-angle esotropia present in the first few months of life may be suitable for early surgery. Earlier surgical intervention, within the first several months of onset, is associated with better sensory outcomes. Similar findings are true for accommodative esotropia; children treated within the first 4 months of constant esotropia have better outcomes. Refractive surgery has been used successfully in adult patients to treat accommodative esotropia. SUMMARY: New developments pertaining to infantile esotropia have helped clarify the pathophysiology of the condition and the best treatment approaches. Abnormal binocular visual input early in life contributes to poor outcomes in both infantile and accommodative esotropia.

Retinopathy of prematurity.

PURPOSE OF REVIEW: This review highlights recent advances in basic science and clinical research on retinopathy of prematurity (ROP). RECENT FINDINGS: The modern concept of ROP pathophysiology is discussed, as are studies investigating anti-angiogenic agents for treatment. Results of the largest clinical trials are summarized. Current screening criteria, potential modifications to them, and telephotoscreening are discussed. SUMMARY: ROP is a challenging and involving area of pediatric ophthalmology.

Vitreous hemorrhage in patients with high-risk retinopathy of prematurity.

PURPOSE: To investigate outcomes in premature infants with high-risk retinopathy of prematurity and secondary vitreous hemorrhage. DESIGN: Retrospective chart review. METHODS: Patients were selected from a database of infants undergoing retinopathy of prematurity screening from September 1997 to November 1999. Infants with high-risk retinopathy of prematurity (zone I or posterior zone II threshold disease) with and without vitreous hemorrhage were compared. MAIN OUTCOME MEASURES: Final stage of retinopathy of prematurity and short-term structural outcome were assessed. Visual acuity and refraction were measured when possible. RESULTS: Twenty-two eyes of 11 patients (group 1) had high-risk (posterior zone II or zone I threshold) retinopathy of prematurity without vitreous hemorrhage. Group 1 patients had a 91% favorable short-term structural outcome. Eight eyes of five infants developed vitreous hemorrhage with high-risk retinopathy of prematurity (group 2). Group 2 patients had only a 12.5% favorable short-term structural outcome. Seven of eight (87.5%) progressed to stage IVa or IVb retinopathy of prematurity. Six eyes underwent vitreoretinal surgery after a median duration of hemorrhage of 36 +/- 29 days (4-70 days). Three eyes developed stage V detachments and three progressed to phthisical degeneration. Final visual acuity was no light perception in three eyes. CONCLUSION: Vitreous hemorrhage, in association with advanced retinopathy of prematurity, is a poor prognostic sign.

Clinical features predictive of successfully weaning from spectacles those children with accommodative esotropia.

PURPOSE: It has been reported that most children with accommodative esotropia are not able to discontinue spectacle wear as they become older. We conducted a prospective study to determine which factors are predictive of successfully weaning children from spectacles. METHODS: Beginning in 1995, children with fully accommodative esotropia with a baseline refractive error of + 1.50 to + 5.00 diopters (D) were gradually weaned from their hyperopic correction. Patients with amblyopia or who had previously undergone strabismus surgery were excluded. Children were weaned in 0.50 D increments until spectacles were discontinued or they developed esotropia, asthenopia, or decreased vision. A multivariate analysis was performed to assess the association between successful weaning and various clinical characteristics. RESULTS: Twelve of 20 children (60%) were successfully weaned from spectacles. Spectacles were prescribed at a mean age of 4.2 +/- 1.5 years, and weaning was initiated at a mean age of 8.0 +/- 1.1 years. The spherical equivalent of the least hyperopic eye when spectacles were prescribed was 2.99 +/- 1.06 D. The clinical characteristic most clearly associated with successful weaning was the refractive error at the time glasses were prescribed. Whereas 10 of 11 (91%) patients with < 3 D of hyperopia were weaned from spectacles, only 2 of 9 (22%) patients with 3 to 5 D of hyperopia were successfully weaned from their spectacles (P =.005). CONCLUSIONS: Many children with fully accommodative esotropia can be weaned out of spectacles during the grade school years. The degree of baseline hyperopia appears to be one of the best predictors of success.