Application of a Deep Machine Learning Model for Automatic Measurement of EZ Width in SD-OCT Images of RP.

Purpose: We applied a deep convolutional neural network model for automatic identification of ellipsoid zone (EZ) in spectral domain optical coherence tomography B-scans of retinitis pigmentosa (RP).

Methods: Midline B-scans having visible EZ from 220 patients with RP and 20 normal subjects were manually segmented for inner limiting membrane, inner nuclear layer, EZ, retinal pigment epithelium, and Bruch's membrane. A total of 2.

Regional Variations and Intra-/Intersession Repeatability for Scotopic Sensitivity in Normal Controls and Patients With Inherited Retinal Degenerations.

Purpose: Dark-adapted visual fields were obtained from patients with inherited retinal degeneration (IRD) and controls to evaluate the effect that age, retinal region, and disease had on scotopic sensitivity. Intra- and intersession test-retest repeatabilities for patients and controls were measured to establish significant change for longitudinal studies.

Methods: A total of 41 patients with IRD and 30 controls had one eye dilated and dark-adapted for 40 minutes.

Dark-Adapted Chromatic Perimetry for Measuring Rod Visual Fields in Patients with Retinitis Pigmentosa.

Purpose: Although rod photoreceptors are initially affected in retinitis pigmentosa (RP), the full-field of rod vision is not routinely characterized due to the unavailability of commercial devices detecting rod sensitivity. The purpose of this study was to quantify rod-mediated vision in the peripheral field from patients with RP using a new commercially available perimeter.

Methods: Participants had one eye dilated and dark-adapted for 45 minutes.

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the gene.

Purpose: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD).

Methods: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations.

Reliability of a Manual Procedure for Marking the EZ Endpoint Location in Patients with Retinitis Pigmentosa.

Purpose: We developed and evaluated a training procedure for marking the endpoints of the ellipsoid zone (EZ), also known as the inner segment/outer segment (IS/OS) border, on frequency domain optical coherence tomography (fdOCT) scans from patients with retinitis pigmentosa (RP).

Methods: A manual for marking EZ endpoints was developed and used to train 2 inexperienced graders. After training, an experienced grader and the 2 trained graders marked the endpoints on fdOCT horizontal line scans through the macula from 45 patients with RP.

Worldwide Argus II implantation: recommendations to optimize patient outcomes.

Background: A position paper based on the collective experiences of Argus II Retinal Prosthesis System investigators to review strategies to optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis implantation.

Methods: Retinal surgeons, device programmers, and rehabilitation specialists from Europe, Canada, Middle East, and the United States were convened to the first international Argus II Investigator Meeting held in Ann Arbor, MI in March 2015. The recommendations from the collective experiences were collected.

Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial.

Purpose: Docosahexaenoic acid (DHA) was supplemented in a single-site, placebo-controlled, randomized clinical trial designed to slow vision loss associated with X-linked retinitis pigmentosa (XLRP); the DHAX Trial. We previously reported no significant differences between supplemented and placebo groups in intent-to-treat analysis of primary ERG outcomes. Assessed herein are hypothesis-generating measures of ancillary visual function outcomes in participants fully adhering to trial protocol.

Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Purpose: To determine whether annual decline in visual field sensitivity is greater in the transition zone at the edge of the frequency-domain optical coherence tomography (fdOCT) inner segment ellipsoid zone (EZ) than at other locations in the visual field.

Design: Prospective, longitudinal, observational study.

Participants: Forty-four patients with X-linked retinitis pigmentosa (XLRP) resulting from a mutation in the RPGR gene.

A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.

Purpose: In patients with retinitis pigmentosa (RP), the inner segment ellipsoid zone (EZ; also known as the inner segment/outer segment [IS/OS] border) is a marker of the usable visual field at a given point in time and of the progression of the disease over time. Here we compare the change in the width per year of the EZ band in patients with autosomal dominant (ad) and x-linked (xl) RP.

Methods: Using optical coherence tomography (OCT), 9-mm horizontal and vertical line scans through the fovea were obtained for one eye of 26 xlRP patients and 33 adRP patients.

Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial.

Importance: X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100,000 persons. Because no cure is available for this orphan disease and treatment options are limited, slowing of disease progression would be a meaningful outcome.

Objective: To determine whether high-dose docosahexaenoic acid (DHA), an ω-3 polyunsaturated fatty acid, slows progression of X-linked retinitis pigmentosa measured by cone electroretinography (ERG).

A Comparison of Methods for Tracking Progression in X-Linked Retinitis Pigmentosa Using Frequency Domain OCT.

Purpose: To compare the efficacy of frequency domain optical coherence tomography (fdOCT)-derived outer retinal measures in tracking disease progression in x-linked (xl) retinitis pigmentosa (RP) patients.

Methods: Macular volume scans and line scans (Spectralis) were obtained from 27 xlRP patients (15.3 ± 6.

Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

Importance: Determining the annual rate of change in the width of the inner segment ellipsoid zone (EZ; ie, inner/outer segment border) in the context of short-term variability should allow us to better understand the value of this measure for future treatment trials in X-linked retinitis pigmentosa (XLRP).

Objectives: To identify the width of the central region showing an EZ and to determine the short-term repeat variability and the annual rate of change in the width of the EZ from spectral-domain optical coherence tomography (SD-OCT) measures in RP.

Design: Patients with recessive or simplex RP (age range, 8-65 years; mean age, 40.

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

Objective: To characterize the visual phenotype caused by mutations in the BTB-Kelch protein, KLHL7, responsible for the RP42 form of autosomal dominant retinitis pigmentosa (RP).

Methods: Comprehensive ophthalmic testing included visual acuity, static visual field, kinetic visual field, dark adaptometry, full-field electroretinography, spectral-domain optical coherence tomography, and fundus photography. Longitudinal visual function data (range, 15-27 years) were available for some of the affected individuals.

ApoER2 function in the establishment and maintenance of retinal synaptic connectivity.

The cellular and molecular mechanisms responsible for the development of inner retinal circuitry are poorly understood. Reelin and apolipoprotein E (apoE), ligands of apoE receptor 2 (ApoER2), are involved in retinal development and degeneration, respectively. Here we describe the function of ApoER2 in the developing and adult retina.

Rod photoreceptor temporal properties in retinitis pigmentosa.

One of the characteristic signs of retinitis pigmentosa (RP) is the progressive loss of night vision. We have previously shown that the gain of rod photoreceptor activation is moderately reduced in some patients with RP, but this decrease in activation kinetics is not sufficient to account for the night blindness. Recently, single rod recording from animal models of RP showed rods under degeneration remain saturated for shorter periods than normal rods; i.

The transition zone between healthy and diseased retina in patients with retinitis pigmentosa.

Purpose: To describe the structural changes in the transition zone from relatively healthy retinal regions to severely affected regions in patients with retinitis pigmentosa (RP) using frequency domain optical coherence tomography (fdOCT).

Methods: FdOCT line scans of the horizontal meridian were obtained from one eye of 13 patients with RP and 30 control subjects. The patients had normal or near normal foveal sensitivities and visual field diameters ≥10°.

A comparison of visual field sensitivity to photoreceptor thickness in retinitis pigmentosa.

Purpose: To explore the relationship between visual field sensitivity and photoreceptor layer thickness in patients with retinitis pigmentosa (RP).

Methods: Static automated perimetry (central 30-2 threshold program with spot size III; Humphrey Field Analyzer; Carl Zeiss Meditec, Inc., Dublin, CA) and frequency domain optical coherence tomography (Fd-OCT) scans (Spectralis HRA+OCT; Heidelberg Engineering, Vista, CA) were obtained from 10 age-matched normal control subjects and 20 patients with RP who had retained good central vision (better than 20/32).

Macular atrophy in birdshot retinochoroidopathy: an optical coherence tomography and multifocal electroretinography analysis.

Purpose: The purpose of this study was to evaluate macular atrophy by frequency-domain optical coherence tomography (OCT) in patients with birdshot retinochoroidopathy and to compare the resulting thickness measures with visual acuity and multifocal electroretinography (mfERG).

Methods: Measures were obtained from 14 eyes of 7 patients with birdshot retinochoroidopathy and 23 normal eyes. Optical coherence tomography-3 measures of macular thinning were related to visual acuity, mfERG response density, and time since diagnosis.

Photographic assessment of changes in torsional strabismus.

The horizontal and vertical components of strabismus are measured routinely and relatively easily in the clinical setting using prism-and-cover and/or corneal light reflex tests. The third dimension of ocular alignment, ocular torsion, is more difficult to assess. Objective torsional deviation (cyclotropia) is evaluated qualitatively with fundus examination.

Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography.

Purpose: To better understand the effects of retinitis pigmentosa (RP) on post-receptor anatomy, the thicknesses of the receptor, inner nuclear, retinal ganglion cell (RGC), and retinal nerve fiber layers (RNFL) were measured with frequency-domain optical coherence tomography (fdOCT).

Methods: FdOCT scans were obtained from the horizontal midline in 30 patients with RP and 23 control subjects of comparable age. Raw images were exported and the thicknesses of photoreceptor/RPE, inner nuclear, RGC plus inner plexiform, and nerve fiber layers were measured with a manual segmentation procedure aided by a computer program.

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

Sensory hair bundles in the inner ear are composed of stereocilia that can be interconnected by a variety of different link types, including tip links, horizontal top connectors, shaft connectors, and ankle links. The ankle link antigen is an epitope specifically associated with ankle links and the calycal processes of photoreceptors in chicks. Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus.

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Purpose: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn).

Design: Prospective, observational case series.

Methods: Visual function assessment included visual acuity, color vision, visual field, dark adaptometry, full-field electroretinography (ffERG), and multifocal electroretinography (mfERG).