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To evaluate the accuracy and safety of oral fluorescein angiography (OFA) in differentiating papilledema from pseudopapilledema in pediatric patients.Retrospective evaluation of a diagnostic test.We retrospectively reviewed medical records of all children ≤18 years of age who presented to the Arkansas Children's Hospital between May 2018 and August 2021 with suspected optic disc (OD) swelling that had OFA and images30 minutes after oral ingestion. Two masked specialists interpreted the images as either OD leakage, no leakage, or borderline leakage. Optic disc swelling was graded clinically according to the Frisen grading scale (0-5). We compared OFA images to the final clinical diagnosis and calculated the accuracy of the test as follows: (number of eyes correctly identified as papilledema [true positive] + number of eyes correctly identified as pseudopapilledema [true negative]) / (total number of eyes) × 100%.Forty-five patients (90 eyes) were included, 11 patients with papilledema and 34 with pseudopapilledema. The mean age was 14.1 ± 3.5 years; 66.7% were female. The accuracy of OFA was 62% for reviewer 1 and 69% for reviewer 2. No ocular or systemic side effects after OFA were observed. There was substantial agreement (k = 0.779) between both reviewers in grading the OFA images.OFA cannot definitively distinguish papilledema from pseudopapilledema in children and should be interpreted in conjunction with other clinical findings.

Purpose To report the case of a ten-year old girl with torpedo maculopathy with a complete vitelliform lesion and describe associated optical coherence tomography (OCT), OCT angiography (OCTA), multifocal electroretinogram (ERG) and adaptive optics ophthalmoscopy (AOO) imaging of the lesion. Observations An asymptomatic ten-year old girl with visual acuity of 20/15 OU was referred for evaluation of possible Best's disease of her left eye. The unilaterality, location, and shape of the lesion was consistent with torpedo maculopathy. OCT and autofluorescence (AF) revealed that the entire lesion was composed of subretinal hyperreflective material that was hyperautofluorescent, consistent with vitelliform material. Within the boundary of the lesion, OCTA showed reduced choriocapillaris density while adjacent to the lesion, the choriocapillaris density was slightly increased. Microperimetry demonstrated normal sensitivity in both eyes, electrooculograms (EOG) were normal and multifocal ERG showed symmetrical mildly supernormal amplitudes. Additionally, AOO demonstrated that nasal to the lesion there were clusters of hyper-reflective areas, and immediately adjacent to the lesion cones were poorly resolved. However, there was a return to more normal photoreceptor architecture outside of the lesion. Conclusions and Importance Torpedo maculopathy lesions typically present with outer retinal attenuation and retinal pigmented epithelium (RPE) atrophy. Vitelliform material was recently observed for the first time in association with Torpedo maculopathy in a case report that described small vitelliform material at the periphery of the lesion. We report the second case of torpedo maculopathy associated with a vitelliform lesion and the first description of a torpedo lesion composed fully of presumed vitelliform material. We also describe findings of OCTA, multifocal ERG and AOO imaging in torpedo maculopathy with vitelliform lesion.

Purpose To evaluate the phenotypic spectrum of autosomal recessive RP1-associated retinal dystrophies and assess genotypic associations. Methods A retrospective multicenter study was performed of patients with biallelic RP1-associated retinal dystrophies. Data including presenting symptoms and age, visual acuity, kinetic perimetry, full field electroretinogram, fundus examination, multimodal retinal imaging, and RP1 genotype were evaluated. Results Nineteen eligible patients from 17 families were identified and ranged in age from 10 to 56 years at the most recent evaluation. Ten of the 21 unique RP1 variants identified were novel, and mutations within exon 2 accounted for nearly half of alleles across the cohort. Patients had clinical diagnoses of retinitis pigmentosa (13), cone-rod dystrophy (3), Leber congenital amaurosis (1), early-onset severe retinal dystrophy (1), and macular dystrophy (1). Macular atrophy was a common feature across the cohort. Symptom onset occurred between 4 and 30 years of age (mean 14.9 years, median 13 years), but there were clusters of onset age that correlated with the effects of RP1 mutations at a protein level. Patients with later-onset disease, including retinitis pigmentosa, had at least one missense variant in an exon 2 DCX domain. Conclusions Biallelic RP1 mutations cause a broad spectrum of retinal disease. Exon 2 missense mutations are a significant contributor to disease and can be associated with a considerably later onset of retinitis pigmentosa than that typically associated with biallelic RP1 mutations.

Purpose The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. Methods Patients diagnosed with congenital microcephaly and chorioretinopathy or FEVR were included. Molecular investigations consisted of targeted genetic sequencing. Data from medical records, ophthalmologic examination and imaging, electroretinography, and visual fields were analyzed for systemic and ophthalmic features and evidence of posterior segment disease progression. Results Twelve patients from 9 families were included and had a median of 8 years of follow-up. Nine patients had KIF11 variants, two had heterozygous TUBGCP6 variants, and one had heterozygous variants in TUBGCP4. All patients had reduced visual function and multiple individuals and families showed features of both chorioretinopathy and FEVR. Progression of posterior segment disease was highly variable, with some degree of increased atrophy of the macula or peripheral retina or increased vitreoretinal traction observed in 9 of 12 patients. Conclusions Microcephaly due to mutations in KIF11, TUBGCP4, or TUBGCP6 can be associated with retinal disease on a spectrum from chorioretinal atrophy to FEVR-like posterior segment changes. Visually significant disease progression can occur and patients should be monitored closely by a team experienced in ophthalmic genetics.

The authors report a case of asymptomatic leukemic optic neuropathy as the first sign of acute lymphoblastic leukemia relapse in a 4-year-old boy. Routine ophthalmologic examination showed normal visual acuity and pupillary function in the presence of a tumoral mass covering the left optic disc. The mass resolved with preservation of vision after intrathecal chemotherapy. A routine ophthalmological examination is recommended for all patients with a history of acute lymphoblastic leukemia to exclude optic nerve involvement without systemic symptoms or signs. Vision can be preserved and radiation avoided by using targeted chemotherapy. [ J Pediatr Ophthalmol Strabismus . 2017;54:e60–e62.]

Introduction: Topical corticosteroids are commonly prescribed for children with atopic dermatitis. Although generally well tolerated, long term unsupervised use can lead to ocular damage, including glaucoma. Much of the current literature focuses on the periorbital use in older patients. We present a case of an adolescent who suffered glaucomatous damage secondary to long term topical steroid use on her extremities. Methods: This is a case report of a child with extensive work-up for glaucoma suspect. Results: A 7-year-old African American female was found to have glaucomatous damage after using 2.5% hydrocortisone cream on her arms, legs, and back of neck twice daily continuously for 2 years. There were no other mechanisms that could have produced a secondary glaucoma. Congenital anomalous disk is a remote possibility. Discussion: Steroid cream use for atopic dermatitis is relatively common. The side effect profile of topical corticosteroids has been well documented and includes glaucoma. These patients may not have any visual symptoms, and can present at an advanced stage, with irreversible vision loss. Children with atopic dermatitis are especially susceptible to the systemic effects of steroids because of the damaged epithelial layer and also the body surface area to volume, both of which increase the bioavailability of the medication. Conclusion: Because topical steroids are commonly used, especially in children, patients need to be aware of the potentially dangerous side effects, including vision loss from glaucoma.

We report the results of a comparative study at a single center on 214 eyes of 109 pediatric patients in whom IOP was measured using the Icare rebound tonometer and Goldmann applanation tonometry. Measurements from the two modalities demonstrated a correlation coefficient of 0.83 (P < 0.001), with Icare measuring on average 1.38 mm Hg higher. Compared to Goldmann, the Icare was more easily tolerated in the children studied. In 37 eyes that tolerated pachymetry, central corneal thickness was positively correlated with Icare measurements.

Plesiomonas shigelloides rarely causes extraintestinal human disease, and infection of ocular tissues is even rarer, never having been reported as the sole pathogen of posttraumatic ocular infection. We report the first case of infectious keratitis due solely to P. shigelloides following traumatic corneal laceration and a literature review with regard to P. shigelloides ocular disease.

To determine whether the introduction of iCare rebound tonometry in a pediatric ophthalmology clinic resulted in fewer examinations under anesthesia to evaluate children with glaucoma.The medical records of consecutive glaucoma patients were retrospectively reviewed. The numbers of examinations under anesthesia (EUAs) and office visits that included measurement of intraocular pressure (IOP) were compared for three periods relative to introduction of the Icare (Icare Finland Oy, Helsinki, Finland) rebound tonometer into our clinical practice: before device introduction, learning/transition period, and routine use.A total of 87 subjects were included: 48 subjects met inclusion criteria for the first period; 58 patients met inclusion criteria for the third period (some subjects straddled all three periods). The average patient age for the first period was 4.2 years and 4.9 years (P = 0.3) for the third period. The number of EUAs performed before the introduction of the Icare was 55 and after the introduction of the Icare was 18 (P0.001). The number of office visits at which IOP was measured increased from 34 to 151 (P0.001). Data from the transition period suggest a trend and a short learning period.The use of Icare tonometry decreased the need for EUAs to evaluate children with glaucoma and significantly increased successful IOP measurement in clinic.