Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Ocular Surface Disease in a PICU: Incidence and Outcomes With a Dynamic Eye Care Protocol.

OBJECTIVES: Sedated intensive care patients have impaired ocular protective mechanisms putting them at risk for ocular surface disease with potential vision loss. Historically, routine eye care has been limited to critically ill patients receiving neuromuscular blockade. The aim of this project was to determine the occurrence rate of ocular surface disease in sedated and ventilated children, identify risk factors, and determine the progression of injury with routine eye care. DESIGN: Prospective cohort study. SETTING: A tertiary care medical-surgical PICU. PATIENTS: All intubated patients admitted from May 2015 to December 2016. INTERVENTIONS: Staff education regarding corneal examination with fluorescein, and routine eye care as per a PICU eye care protocol. MEASUREMENTS AND MAIN RESULTS: We evaluated 479 patients (1,242 corneal exams) and found that 15% had ocular surface disease at admission to the PICU: keratopathy 62, abrasion 16. The highest incidence was in trauma patients (39.0%) and those intubated in the emergency department (22.2%) or prehospital setting (42.9%). Of the 245 patients with multiple ocular assessments, 32.2% displayed ocular surface disease at some point during their hospitalization: keratopathy 73, abrasion 24. Ourprotocol dictated increased frequency of eye care if ocular surface disease worsened. As a result, the overall incidence of ocular surface disease decreased to 8.6% by the last examination (keratopathy 19, mild abrasion 2), but more severe ocular abnormalities such as corneal infiltrates, ulcers, or scarring were not observed. Based on multivariate analysis, clinical factors associated with increased risk of ocular surface disease included primary diagnosis, and lagophthalmos (incomplete eyelid closure). CONCLUSIONS: Ocular surface disease is an under-recognized process in critically ill pediatric patients. A standardized and dynamic protocol may improve corneal health, which in turn may reduce injury, pain, infection, and long-term vision loss.

Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum.

Pigmentary retinal dystrophy (PRD) is a group of inherited disorders involving the progressive degeneration of rod and cone photoreceptors and the retinal pigment epithelium (RPE), which can progress to pigmentary retinopathy (PR). We present a case of PRD in a female pediatric patient who has pathogenic variants in the PRPH2 and PEX1 genes. The patient has associated macular edema and secondary visual impairment. Treatment has included serial dexamethasone intravitreal implant injections and topical dorzolamide. The PEX1 gene mutation is associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum (PBD-ZSS) and resulting retinal dystrophies. The PRPH2 mutation may play a role in macular edema and PRD, as it is implicated in macular degeneration, choroid defects, and photoreceptor dysfunction. In this case, we review multiple gene mutations playing potential etiologic roles for PRD and discuss care management.

Delayed Pediatric Diagnosis of Cysticercosis and Uveitis Presenting as Chronic Multifocal Subretinal Fluid Blebs.

Purpose: To report an unusual case of intraocular cysticercosis in a 11-year-old boy that presented with chronic posterior uveitis and associated recalcitrant subfoveal and multifocal subretinal fluid blebs. The patient was later found to have a subsequent free-floating vitreous cyst that had been concealed from examination for years. Methods: Case report. Results: A diagnostic and therapeutic vitrectomy and cyst extraction revealed eosinophilic material suggestive of cysticercosis. Brain magnetic resonance imaging revealed suggestive neurocysticercosis and serological titers for cysticercosis immunoglobulin G were positive. After antihelminthic therapy and surgical removal of the cyst, the patient did well with complete resolution of multifocal subretinal fluid blebs and visual acuity improvement to 20/25. Conclusion: Ocular cysticercosis is a sight-threatening parasitic disease that can cause visually threatening manifestations if not identified and treated in a timely manner. Awareness of atypical presentations such as seen in this case in a pediatric patient is paramount.

Cup-to-disc ratio in patients with idiopathic intracranial hypertension is smaller than that in normal subjects.

BACKGROUND: A small cup-to-disc (C:D) ratio is an established risk factor for nonarteritic anterior ischemic optic neuropathy. We sought to determine if a small C:D ratio was present in patients with idiopathic intracranial hypertension (IIH) as a potential risk factor for visual loss in that disorder. METHODS: We performed a retrospective review of 52 charts of patients diagnosed with IIH at Michigan State University from 1990 to 2003. Twenty-eight patients (55 eyes) met diagnostic inclusion criteria and had undergone fundus photography of sufficient quality to allow assessment of the C:D ratio after optic disc edema had become minimal or resolved. C:D ratio was measured from the digitized photographs. The data were placed into rank order categories (0.1 unit intervals) and compared to published normative C:D data. RESULTS: The average vertical C:D ratio was 0.143 (SD 0.061) in the right eye and 0.127 (SD 0.056) in the left eye. The average horizontal C:D ratio was 0.145 (SD 0.053) in the right eye and 0.133 (SD 0.053) in the left eye. The IIH group rank distribution data were compared to published normative C:D ratio data (chi-square test). In each case, the IIH population had a statistically significantly smaller C:D ratio (P < 0.0001) compared to normal subjects. CONCLUSIONS: The C:D ratio in our IIH population was smaller than that in published control populations. A small C:D ratio may lower the threshold for developing optic disc edema from ischemia, increased intracranial pressure, or other mechanisms. Additional studies are needed to confirm these findings.

Accuracy of online health information on amblyopia and strabismus.

The internet is a major source of health information for patients and parents. The information found online influences patients' and caregivers' understanding of diagnoses and decision making regarding management. We report the results of a survey completed by 4 fellowship-trained pediatric ophthalmologists evaluating the accuracy and clarity of various websites that provide information on amblyopia and strabismus.

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.

OBJECTIVES: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics of RHs in children with increased ICP. METHODS: We conducted a prospective, multicenter study of children <4 years old with newly diagnosed increased ICP as determined by using direct measurement and/or clinical criteria. Infants who were premature, neonates, and suspected survivors of abusive head trauma were excluded on the basis of nonocular findings. Fundus examinations were performed; extent, number, and type of RH in each of 4 distinct retinal zones were recorded. RESULTS: Fifty-six children (27 boys) were studied (mean age 15.4 months; range 1-43 months). All of the children had elevated ICP that required intervention. One child had papilledema. No child (0%; 95% confidence interval: 0%-6.4%) or eye (0%; 95% confidence interval: 0%-3.3%) was found to have an RH. Causes of increased ICP included hydrocephalus, intraventricular hemorrhage, congenital malformations, malfunctioning shunts, and the presence of intracranial space-occupying lesions. CONCLUSIONS: Although acute increased ICP can present in children with a pattern of peripapillary superficial RHs in the presence of papilledema, our study supports the conclusion that RHs rarely occur in the absence of optic disc swelling and do not present beyond the peripapillary area in the entities we have studied.

Optical coherence tomography to monitor vigabatrin toxicity in children.

PURPOSE: The antiepileptic drug vigabatrin is known to cause permanent loss of vision. Both visual field testing and electroretinogram are used to detect retinal damage. Adult data on optical coherence tomography (OCT) shows that retinal nerve fiber layer (RNFL) thinning may be an early indicator of vigabatrin-induced retinal toxicity. The purpose of this study was to investigate whether OCT can detect early vigabatrin-induced retinal toxicity in children. METHODS: Pediatric patients (≤18 years of age) requiring vigabatrin for seizure control who were followed at our institution were invited to participate. Patients were examined according to manufacturer guidelines, with most examinations taking place under general anesthesia. RNFL thickness was measured by OCT (Stratus Model 3000, Zeiss) and compared to total cumulative dose of vigabatrin. In most cases, indirect ophthalmoscopy, fundus photography, and electroretinography were also performed. RESULTS: OCT and complete dosing data was available for 19 patients. Patients with tuberous sclerosis (TS, n = 12) received higher cumulative doses (mean, 1463 g) than non-TS patients (mean, 351 g, P = 0.044). RNFL thinning was detected in the nasal (P < 0.01), superior (P < 0.01), and inferior (P < 0.05) quadrants in patients with TS, particularly once cumulative dose exceeded 1500 g. CONCLUSIONS: In our study population of patients with TS, higher cumulative doses of vigabatrin were associated with RNFL thinning in the nasal, superior, and inferior quadrants. These findings were pronounced once cumulative dose exceeded 1500 g. This pattern of RNFL thinning is similar to what has been shown in adult patients taking vigabatrin.

Diagnostic yield for neuroimaging in patients with unilateral eye or facial pain.

BACKGROUND: The neuroimaging evaluation of isolated pain in or around the eye has not been studied previously. We report the low diagnostic yield of neuroimaging in patients who have a normal ocular examination and unilateral eye pain or facial pain predominantly affecting the eye. METHODS: Retrospective review of patients referred to 3 neuro-ophthalmology practices for unexplained pain in or around the eye. Inclusion criteria were adults with isolated unilateral eye/facial pain, neuroimaging, and a normal eye exam. Ex-clusion criteria were symptoms typical of a defined pain syndrome (e.g., trigeminal neuralgia or giant cell arteritis), and exam findings that would account for the pain. RESULTS: One hundred and twenty-seven (127) of the 760 reviewed patients met study criteria, and underwent MRI (75) or CT (34) scans, or both (18). Imaging was normal in 106 (83%). Abnormalities (n = 21) on imaging (17%) included nonspecific T2-weighted hyperintensities (10), sinusitis (5), superior ophthalmic vein enlargement (1), pontine lacunar infarct (1), Chiari malformation (1), thalamic mass (1), old occipital stroke (1), and focal enlargement of the third cranial nerve (1). INTERPRETATION: Although imaging showed abnormalities in 17% of cases of isolated pain in or around the eye, only 2 abnormalities were believed to be possibly related to the pain and only 1 case was probably related. The diagnostic yield of neuroimaging in patients with a normal examination and isolated, unilateral eye/facial pain referred to a neuro-ophthalmologist is low.