Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.

Detection of Relative Afferent Pupillary Defects Using Eye Tracking and a VR Headset.

Purpose: The purpose of this study was to assess the feasibility of detecting relative afferent pupillary defects (RAPDs) using a commercial virtual reality headset equipped with an eye tracker.

Methods: This is a cross-sectional study in which we compare the new computerized RAPD test with the traditional clinical standard using the swinging flashlight test. Eighty-two participants including 20 healthy volunteers aged 10 to 88 years were enrolled in this study.

Differences in morphology and visual function of myelin oligodendrocyte glycoprotein antibody and multiple sclerosis associated optic neuritis.

Background: Myelin oligodendrocyte glycoprotein immunoglobulin G associated optic neuritis (MOG-ON) is a recently described entity. Recent studies have shown that MOG-ON has a more severe clinical presentation than classic optic neuritis (ON).

Objective: This study aimed to define morphological characteristics of MOG-ON, correlate these with clinical characteristics and compare them with multiple sclerosis associated ON (MS-ON) and healthy controls (CTRL).

Accuracy and Reliability of a Handheld, Nonmydriatic Fundus Camera for the Remote Detection of Optic Disc Edema.

Background: Optic disc edema can be an important indicator of serious neurological disease, but is poorly detected using the direct ophthalmoscope. Portable fundus photography may overcome this difficulty.

Introduction: The purpose of this study was to determine the sensitivity and specificity of a handheld, nonmydriatic fundus camera for the detection of optic disc edema.

Persistent diplopia and superior oblique muscle dysfunction following dissection of the orbital periosteum in cranial base surgery.

Background/aims: Persistent diplopia secondary to a fourth cranial nerve palsy is poorly documented after open cranial base surgery.

Methods: Six cases of fourth cranial nerve palsy after cranial base surgery were drawn from the Neuro-Ophthalmology and Head and Neck Surgery Clinics at the University of Michigan from 2004 to 2012.

Results: Six patients developed diplopia and ocular misalignment in a pattern suggestive of superior oblique palsy following dissection of the medial orbital periosteum as part of a surgical approach to the anterior cranial base.

Homonymous hemianopia from infarction of the optic tract and lateral geniculate nucleus in deep cerebral venous thrombosis.

A 20-year-old man developed right homonymous hemianopia, hemiparesis, and hemisensory loss from deep cerebral venous thrombosis in the setting of high altitude. Approximately 3 months later, brain MRI showed encephalomalacia of the left optic tract and lateral geniculate nucleus, as well as signal abnormalities of the internal capsule and posterolateral thalamus. Homonymous hemianopia has previously been described in 1 case after deep cerebral venous thrombosis but without detailed neuroimaging features.

A case of purtscher-like retinopathy following a motor vehicle accident.

Purpose: To describe a case of Purtscher-like retinopathy following seat belt compression of the chest in a motor vehicle accident.

Methods: Case report.

Results: A 53-year-old woman developed Purtscher-like retinopathy following compression of the chest by her seat belt in a motor vehicle accident.