Interocular Symmetry in Macular Choroidal Thickness in Children

Objective. To report interocular differences in choroidal thickness in children using spectral domain optical coherence tomography (SD-OCT) and correlate findings with biometric data. Methods. This observational cross-sectional study included 91 (182 eyes) healthy children aged 6 to 17 years with no ocular abnormality except refractive error. After a comprehensive eye exam and axial length measurement, high definition macular scans were performed using SD-OCT. Two observers manually measured the choroidal thickness at the foveal center and at 1500 µm nasally, temporally, inferiorly, and superiorly. Interocular differences were computed; correlations with age, gender, refractive error, and axial length were performed. Results. Mean age was 10.40 ± 3.17 years; mean axial length and refractive error values were similar between fellow eyes. There was excellent correlation between the two observers’ measurements. No significant interocular differences were observed at any location. There was only a trend for right eyes to have higher values in all thicknesses, except the superior thickness. Most of the choroidal thickness measurements correlated positively with spherical equivalent but not with axial length, age, or gender. Conclusion. Choroidal thickness measurements in children as performed using SD-OCT revealed a high level of interobserver agreement and consistent interocular symmetry. Values correlated positively with spherical equivalent refraction

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses

Correlation between Optical Coherence Tomography and Optic Nerve Head Swelling Due to Pseudotumor Cerebri

Clinical management of patients with pseudorumor cerebri (PTC) relies upon the monitoring of subjective symptoms of headache and visual symptoms, as well as objective measurements ofvisual acuity, visual fields, and optic nerve head (ONH) swelling. The Frisen scale is often used to grade papilledema; however, it may have significant interexamination variability between different examiners. Optical coherence tomography (OCT) of the peripapillary nerve fiber layer (NFL), performed routinely for eyes with open angle glaucoma, might provide a quantitative measurement of ONH elevation in patients with PTC, thereby aiding in their clinical management. We studied the relationship between OCT measures ofmacular and NFL thickness and gtades ofONH swelling based on clinical grading score determined by an experienced neuro-ophthalmologist

The Terrible Threes (PowerPoint)

Third nerve palsyA 3-year old female with a third cranial nerve palsy. One year prior to presentation, vomiting, headache noted along with left ptosis and anisocoria: Dx Horner Syndrome.20/20 OD, 20/25 OS; XT in primary gaze; Right HT on upgaze, left HT on downgazeMRIOvoid lesion attached to medial aspect of CN III composed of fibrocollagenous tissue lined with a layer of cuboidal and columnar epithelium.SurgeryAttache

The Terrible Threes

Third nerve palsyA 3-year old female with a third cranial nerve palsy. One year prior to presentation, vomiting, headache noted along with left ptosis and anisocoria: Dx Horner Syndrome.VA: 20/20 OD, 20/25 OS; XT in primary gaze; Right HT on upgaze, left HT on downgazeMRIOvoid lesion attached to medial aspect of CN III composed of fibrocollagenous tissue lined with a layer of cuboidal and columnar epithelium.SurgeryAttache

A Shot of Adrenaline (Audio)

Blurred OUA 21-year old female with a 6-day history of blurred vision OU. Previous history significant to visual complaint after epinephrine injection for hives.VA: 20/40 OD, 20/30 OS; Color plates: 9.5/10 OD, 7/10 OS.MRIThinning of macular ring with focal atrophy1. Turbeville, SD, Cowan LD and Gass JD, Acute macular neuroretinopathy: a review of the literature, Surv Ophthalmol, 2003, 481, 1-11. 2. O'Brien, DM, Farmer SG, Kalina RE and Leon JA, Acute macular neuroretinopathy following intravenous sympathomimetics, Retina, 1989, 94, 281-286. 3. Desai, UR, Sudhamathi K and Natarajan S, Intravenous epinephrine and acute macular neuroretinopathy, Arch Ophthalmol, 1 993, 1118, 1 026-1 027

Macular Homonymous Hemianopsia

Patients with an optic tract lesion develop a homonymous hemianopsia associated with bow tie optic atrophy. Optical Coherence Tomography(OCT) has been proven to be a useful clinical tool in the diagnosis and follow-up of optic neuropathies and optic atrophy

Evaluation of Child with Full Optic Disc - Role of Imaging; in Distinguishing Pseudopapilledema versus Real; Papilledema (OCT is Useful)

Distinguishing low grade papilledema (Frisen grade<2, no vessel obscuration) from pseudopapilledema can be challenging in children, especially the younger ones. Multiple imaging modalities have been used over the past few decades, and most recently, OCT has become a popular method due to the ease of obtaining it in the younger population

Doc, I Really Can't See!

Obstructive hydrocephalus associated with dilated third ventricle can result in central scotoma and optic atrophy without papilledema or afferent pupillary defect early on