Background: Pupillary evaluation is a crucial element of physical exams. Noting size, reactivity, and consensual response is critical in assessing for optic nerve dysfunction. We aim to establish normative data for scotopic pupillary size and function in the pediatric population in a clinical setting. Methods: Pupillometry was obtained prospectively for consecutive, normal patients < 18 years old being evaluated by Lurie Children’s Ophthalmology. Quantitative data included maximum (MAX) and minimum (MIN) diameters, constriction percentage (CON), latency (LAT), average (ACV) and maximum (MCV) constriction velocities, average dilation velocity (ADV), and 75% recovery time (T75). Iris color was noted as light, intermediate, or dark. Results: 196 eyes of 101 participants (42.6% male, ages 1–17 years, average age 10.3 years) were analyzed. Mean MAX was 6.6 mm (5.1–8.1 mm 95% CI); MIN was 4.7 mm (3.1–6.1 mm 95% CI); CON was 30% (17–42 95% CI); LAT was 230 milliseconds (160–300 ms 95% CI); ACV was 3.70 mm/sec (2.21–5.18 mm/sec 95% CI); and ADV was 0.88 mm/sec (0.38–1.38 mm/sec 95% CI). Age had a positive correlation with MAX, MIN, and CON. 84.2 and 95.8% of participants showed resting pupil asymmetry of ≤0.5 mm and ≤ 1.0 mm, respectively. Conclusions: Quantitative pupillometry can be a useful tool for screening pediatric patients. We sought to establish normative data in this group. We found males to have significantly greater MCV and CON than females (p < 0.05). Also, age had a positive correlation with MAX, MIN, and CON.

The purpose of this study was to characterize the clinical entity of dacryops infections through imaging with or without histopathology in the differential of ocular adnexal masses in the setting of infection. A retrospective chart review was performed on 5 patients seen at 1 clinical practice in which a complete ophthalmologic examination and imaging of the lesion had been obtained. Two of these patients additionally obtained surgical intervention with histopathologic examination. The main lacrimal gland was involved in all 5 patients with dacryops infection presenting unilaterally. The average age of the patients was 44.6 years. Predisposing factors of eyelid margin disease, conjunctivitis, and contact lens usage were highlighted. CT provided useful information on the location and size of the lesion. Excision with or without marsupialization appears to prevent recurrence and provides a histopathologic diagnosis although spontaneous (or self-induced) drainage of the cyst in addition to antibiotic therapy can successfully manage the infection and cyst size, wherein affected individuals may not pursue further surgical management. Dacryops infection is a rare but important consideration in the differential of a mass lesion in the upper fornix associated with inflammation that may be confused with orbital cellulitis or abscess. Orbital imaging is helpful in delineating the extent of the lesion, whereas surgical excision with histopathology can confirm the diagnosis. The authors described 5 cases with this acute presentation and highlighted concomitant factors that may predispose certain patients to the development of infection.

Background: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature. Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12. Results: In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions. Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.

Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the NDP gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date. This is a case demonstrating the association between deletion of the coding region NDP gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the NDP gene.