Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.

Purpose: To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic disease causing variants in inherited retinal dystrophies.

Methods: Affected members from three pedigrees with classical enhanced S-cone syndrome (ESCS; Pedigree 1), congenital stationary night blindness (CSNB; Pedigree 2), and achromatopsia (ACHM; Pedigree 3), respectively, underwent detailed ophthalmologic evaluation, optical coherence tomography, and electroretinography. The probands underwent panel-based genetic testing followed by GS analysis.

Rod bipolar cell dysfunction in POLG retinopathy.

Objective: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO).

Methods: The proband, a male child of Indian descent, underwent serial systemic and ophthalmological evaluations from birth until 14 years of age. Eye examinations included visual acuity and extraocular movement assessments, fundus photography, spectral domain optical coherence tomography and full-field electroretinography (ERG).

A Simple Clinical Application for Locating the Frontotemporal Branch of the Facial Nerve Using the Zygomatic Arch and the Tragus.

Background: The seventh cranial nerve (CN VII), also known as the facial nerve, is an anatomically intricate structure the branches of which serve several physiologic functions. CN VII innervates the muscles of facial expression which are crucial for eye protection, oral competence, and social interaction. The temporal branch, clinically referred to as the frontotemporal branch (FTB), is the most superior of the 5 branches and is at risk during cutaneous surgery of the parotid gland and in the temporal region.