Current update on the visual outcome of optic pathway glioma associated with neurofibromatosis type-1.

Purpose: Clinical and diagnostic evaluation in the follow-up of optic glioma patients with neurofibromatosis type 1 (NF-1) can be difficult. Determining whether and when to provide treatment is a significant challenge in best managing these patients. Update on current information and future directions in management is included in this review. Current Practice: NF-associated optic pathway gliomas (OPGs) present a significant management challenge with high stakes for visual outcomes. Monitoring vision and diagnostic tests are challenging in patients of a younger age. Regardless of whether few or many optic gliomas are encountered during clinical practice. Summary: This review of optic gliomas-NF1-associated gliomas includes the current approach and knowledge of OPG-NF1 and future directions in OPG-NF1 management. This includes the ongoing Multicenter Natural History Study and other clinical trials and outcomes in NF-1 patients with OPG.

A unique case of benign intermittent upbeat nystagmus triggered by light stimulation.

A 3-month-old girl with no past medical history presented with new-onset intermittent upbeat nystagmus. Episodes were triggered by movement into the supine position as well as by bright light flashes. They lasted a few seconds and were not associated with any distress. Neurological examination and work-up, including magnetic resonance imaging of the brain and abdominal ultrasonography, were normal. The eye movements completely resolved after 3 months.

Neurofibromatosis Type 1-Associated Optic Pathway Glioma in Children: A Follow-Up of 10 Years or More.

PURPOSE: This study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follow-up period of at least 10 years in a cohort of children. OPGs are a common manifestation of NF1 and can cause significant visual morbidity. Long-term follow-up in children with NF1-associated OPGs has not been reported previously. DESIGN: Retrospective observational case series. METHODS: This study included children with a documented follow-up of at least 10 years. Three final outcomes were evaluated: visual acuity (VA) per eye (i.e., in the more severely affected eye), VA per patient (i.e., VA when both eyes were open), and the presence of optic nerve head pallor. RESULTS: A total of 45 children were included, followed for a mean of 14 years (range, 10-21 years). At the end of follow-up, abnormal VA (considered moderate to severe impairment) in the more severely affected eye was present in 36% of the patients and in both eyes in 11%. Optic nerve head pallor of 1 or both nerves was present in 62%. In multivariate analysis, only initial VA and optic nerve head appearance at presentation were found to predict the final outcomes. All patients, except for 1, were asymptomatic at presentation and had normal VA and nerves that appeared normal, preserved their good vision in both eyes. Only 1 patient, who had normal VA and normal appearing nerves at presentation, had moderate to severe VA loss at long term follow-up. CONCLUSIONS: In this study, children with NF1-associated OPG whose examination signs and symptoms were normal had a normal initial examination and excellent long-term visual and anatomical outcomes. VA and the appearance of the optic nerve head at presentation predict long-term outcome.

The Long-term Visual Outcomes of Primary Congenital Glaucoma.

PURPOSE: To evaluate the long-term visual outcomes of ab externo trabeculotomy for primary congenital glaucoma (PCG) at a single pediatric ophthalmology center. METHODS: In this retrospective single-center case series, data from 63 eyes of 40 patients who underwent ab externo trabeculotomy between September 2006 and June 2018 were included. The data were analyzed for best corrected visual acuity (BCVA), stereopsis, and surgical success. Kaplan-Meier analysis was performed using the surgical success criteria defined as intraocular pressure (IOP) ≤ 21 mmHg and ≥ 20% below baseline without the need for additional glaucoma surgery. RESULTS: BCVA at the time of diagnosis was 0.37 ± 0.48 logMAR, which changed to 0.51 ± 0.56 logMAR at the final follow-up (P = 0.08). Twenty-five percent of patients had BCVA equal to or better than 20/40 at the final visit. The mean refraction at baseline was -4.78 ± 5.87 diopters, which changed to less myopic refraction of -2.90 ± 3.83 diopters at the final visit. Optical correction was prescribed in 66% of eyes at the final visit. The average final stereopsis was 395.33 sec of arc. The linear regression model showed a significant association between the surgery success rate and final BCVA as well as stereoacuity (P-values: 0.04 and 0.03, respectively). Intraocular pressure (IOP) decreased significantly from 29.79 ± 7.67 mmHg at baseline to 16.13 ± 3.41 mmHg at the final follow-up (P = 0.001). CONCLUSION: Patients with PCG can achieve an acceptable visual acuity and stereoacuity, particularly in cases of timely intervention and close follow-up.

Long-term surgical outcomes of ab externo trabeculotomy in the management of primary congenital glaucoma.

PURPOSE: To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital. METHODS: The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from preoperative IOP, and no need for further glaucoma surgery. Risk factors for failure were identified using Cox proportional hazards ratio. RESULTS: A total of 63 eyes of 40 patients were included. The cumulative probability of success rate was 83% at 3 months, 76% at 6, 73% at 12, 72% at 18, and 65% at final visit. Presentation within 3 months of life was associated with a less favorable outcome. Thirty-five eyes (56%) underwent repeat trabeculotomy to treat a different area of the trabecular meshwork because of inadequately controlled IOP after the first session. Of those who needed another session of trabeculotomy, the final success rate was 60.2%. IOP significantly decreased from 29.79 ± 7.67 mm Hg at baseline to 16.13 ± 3.41 mm Hg by final follow-up (P = 0.001). Patients were followed for an average of 85.74 ± 32.95 months. IOP and success rates remained stable 18 months after surgery. CONCLUSIONS: In our patient cohort, ab externo trabeculotomy was associated with good long-term results. More extensive trabeculotomy (ie, more than one procedure) was associated with better long-term success rates.

Morning glory disc anomaly and ipsilateral sporadic optic pathway glioma.

PURPOSE: To present a rare case of morning glory disc anomaly in association with an ipsilateral low grade glioma. OBSERVATIONS: A 5 year old male presented with a unilateral morning glory disc anomaly and an ipsilateral sporadic optic pathway glioma with chiasmal involvement. After a strict patching regimen his vision improved from 20/400 to 20/80. CONCLUSIONS AND IMPORTANCE: This report strengthens the recommendation for brain magnetic resonance imaging in patients with morning glory disc anomaly. Patching of the contralateral eye should be attempted since the role of amblyopia may be significant.

Congenital lymphocytic choriomeningitis virus-an underdiagnosed fetal teratogen.

Congenital lymphocytic choriomeningitis virus (LCMV) infection is associated with high mortality and morbidity. Although the number of cases reported in the literature has been increasing, it might still be clinically an underdiagnosed human fetal teratogen. We report 2 more cases of serologically proven congenital LCMV infection. One case presented with Aicardi-like syndrome features. Since congenital LCMV infection may mimic Aicardi syndrome, serologic testing should be considered in the workup of patients with Aicardi syndrome to rule out LCMV infection.

Ophthalmic manifestations in neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis. Many manifestations of NF1 involve the eye and orbit, and the ophthalmologist, therefore, plays a significant role in the diagnosis and treatment of NF1 patients. Improvements in diagnostic and imaging instruments have provided new insight to study the ophthalmic manifestations of the disease. We provide a comprehensive and up-to-date overview of the ocular and orbital manifestations of NF1.

Idiopathic bilateral central artery occlusion in a young woman.

Central retinal artery occlusion (CRAO) is uncommon among children and young adults. Bilateral CRAO before the age of 18 years are extremely rare. We present a case of an idiopathic bilateral CRAO in a young healthy female.

Strabismus in patients with neurofibromatosis type 1-associated optic pathway glioma.

PURPOSE: To characterize the incidence, type, natural history, and treatment outcomes of strabismus in pediatric patients with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG). METHODS: The medical records of consecutive patients diagnosed with NF1 and OPG at our neurofibromatosis clinic since 1985 were reviewed retrospectively. We noted age at diagnosis, reason for referral to our clinic, ophthalmologic examination results, presence or absence of strabismus, strabismus type and treatment, and final results of treatment. RESULTS: A total of 76 patients were included. Of these, 22 (28.9%) had strabismus: 5 (22.7%) had esotropia and 17 (77.2%) had exotropia; of those with exotropia, 10 (45%) also had hypotropia. In 12 patients (54.5%), strabismus was present at the first ophthalmologic examination. The development of strabismus preceded the diagnosis of both NF1 and OPG in 4 (5.3%) patients and the diagnosis of OPG in another 2 (2.6%) patients with known NF1. In 16 (76%) patients, the strabismus was sensory. Five patients (22.7%) underwent surgery, which resulted in a deviation angle of <10(Δ) in 1 patient, <20(Δ) in 2 patients, and >20(Δ) in 2 patients. CONCLUSIONS: Strabismus was the presenting symptom and led to the diagnosis of OPG in a subset of patients, including those who did not have a previous diagnosis of NF1. Exotropia, especially associated with a hypotropia, was the most common strabismic deviation seen in these patients. Sensory strabismus was the most common type seen in this population. Deviations of <10(Δ) may be difficult to achieve with strabismus surgery.

Isolated abducens nerve palsy following neonatal hepatitis B vaccination.

We report a case of sudden-onset abducens nerve palsy in an otherwise healthy 8-day-old boy following neonatal hepatitis B vaccination. A complete workup, including magnetic resonance imaging of the brain and orbits revealed no abnormalities. The patient recovered fully, with no recurrence of the abducens nerve palsy despite receiving the full course of the hepatitis B vaccine as well as other recommended immunizations through 18 months of age. We review the literature regarding vaccination-induced abducens nerve palsy and discuss the possible mechanisms of injury.

Outcomes of a two-drug chemotherapy regimen for intraocular retinoblastoma.

BACKGROUND: Retinoblastoma is the most common intraocular tumor of childhood. Vision salvage rates in advanced cases are less than ideal, and the optimal treatment for intraocular retinoblastoma has not been established. We report the results of an institutional retinoblastoma treatment trial to determine the vision salvage rates and toxicity of a regimen combining carboplatin and etoposide with focal retinal therapy. PROCEDURE: Twenty-nine patients diagnosed with retinoblastoma in 48 eyes were treated between 1992 and 2004 with at least six cycles of carboplatin and etoposide combined with focal retinal therapy. RESULTS: The response rate of eyes after six cycles of chemotherapy was 85.4%. Twenty-two eyes were enucleated, but only seven eyes received EBRT. The vision salvage rate without EBRT was 82.6% for eyes with Reese-Ellsworth (R-E) groups I-IV tumors and 20% for eyes with R-E group V tumors. The vision salvage rate without EBRT for eyes with Murphree groups A and B tumors was 77.3% but was only 26.9% for eyes with groups C and D tumors. Acute side effects were minimal. CONCLUSIONS: The combination of carboplatin and etoposide with focal therapy is a well-tolerated regimen that has acceptable vision salvage rates for R-E groups I-IV and Murphree groups A and B retinoblastoma. This combination avoids the use of EBRT and the toxicity of additional chemotherapy agents. However, patients with R-E group V and Murphree groups C and D retinoblastoma have poorer outcomes and require more intensive therapy.

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

PURPOSE: To describe the clinical course and treatment of symptomatic orbital optic nerve gliomas in children with neurofibromatosis type-1 (NF-1). METHODS: A retrospective review of the records of patients with NF-1 and symptomatic orbital optic nerve gliomas seen in a large multidisciplinary NF-1 clinic of a tertiary care children's hospital. The main outcome measures included presenting symptoms and signs, ophthalmologic examination at diagnosis, the presence of progressive disease following diagnosis, type of therapy, and the reasons therapy was instituted. RESULTS: Twelve patients with symptomatic orbital optic nerve gliomas, all of which led to proptosis (eight girls, four boys), were identified. The mean age of diagnosis of NF-1 was 20 months; the mean age of diagnosis of the orbital optic nerve glioma was 26 months. At the time of diagnosis of the tumor, 10 of 12 patients (83%) had decreased visual acuity in the affected eye. Three patients underwent optic nerve resection; eight received chemotherapy, and one was observed without therapy. Of the eight children who received chemotherapy, progressive disease prior to treatment could be documented in only three; none of these eight children had a reproducible improvement in vision following chemotherapy. There was no demonstrable improvement in vision in any treated patient with NF-1-associated orbital optic nerve gliomas. CONCLUSIONS: Although not definitively proven, our data and previous studies suggest that NF-1-associated orbital optic nerve gliomas should not be treated unless there is clear evidence of either ophthalmologic or radiographic progression. Surgical excision of tumors which have led to proptotic eyes without functional vision should be reserved for cosmetic purposes or to treat complications of exposed globes.