Whole genome sequencing of 10 families with optic disc drusen.

Introduction: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD.

Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients.

We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants. Longitudinal data from 84 genetically confirmed XLRP patients were collected from the Danish Retinitis Pigmentosa Registry, spanning the years 1948 to 2014. A visual field summation image revealed the characteristic pattern of retinal degeneration and visual field preservation in XLRP.

Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen.

Introduction: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration. In a recent study, we reported co-existing optic disc drusen (ODD) at 30%, a prevalence 15 times higher than in the general population. The aims of this study were to a) assess if macular retinal nerve fiber layer thickness (RNFLt) was increased in our cohort of RP patients and b) compare RNFLt between RP patients with and without ODD.

Exploring individual differences in amygdala-mediated memory modulation.

Amygdala activation by emotional arousal during memory formation can prioritize events for long-term memory. Building upon our prior demonstration that brief electrical stimulation to the human amygdala reliably improved long-term recognition memory for images of neutral objects without eliciting an emotional response, our study aims to explore and describe individual differences and stimulation-related factors in amygdala-mediated memory modulation. Thirty-one patients undergoing intracranial monitoring for intractable epilepsy were shown neutral object images paired with direct amygdala stimulation during encoding with recognition memory tested immediately and one day later.

Combining Paracentral Acute Middle Maculopathy and Peripapillary Fluid as Biomarkers in Anterior Ischemic Optic Neuropathy.

Purpose: To determine if paracentral acute middle maculopathy (PAMM) and peripapillary intraretinal and subretinal fluid (IRF/SRF) could help distinguish between arteritic anterior ischemic optic neuropathy (A-AION) and nonarteritic AION (NA-AION) at an early stage.

Design: Nested prospective cross-sectional diagnostic accuracy study.

Methods: This study used single-center optical coherence tomography (OCT) data from 8 patients with A-AION and 24 patients with NA-AION from two prospective cross-sectional studies with consecutive sampling (ClinicalTrials.