Two cases of unilateral cone-rod dysfunction presenting in adult females.

Purpose: To describe cases of unilateral cone-rod dysfunction presenting in two middle-aged females.

Methods: This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), multi-focal electroretinogram (mfERG), full-field electroretinogram(ffERG), and genetic testing were obtained.

Correlations of Full-Field Stimulus Threshold With Functional and Anatomical Outcome Measurements in Advanced Retinitis Pigmentosa.

Purpose: To compare full-field stimulus (FST) threshold values to conventional functional and anatomical measures commonly used in clinical practice.

Design: Cross-sectional study.

Methods: Patients with retinitis pigmentosa with nondetectable electroretinogram rod-mediated responses and light-adapted 3.

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.

Purpose: In choroideremia (CHM) carriers, scotopic sensitivity was assessed by dark adapted chromatic perimetry (DACP) and outer retinal structure was evaluated by multimodal imaging.

Methods: Nine carriers (18 eyes) and 13 healthy controls (13 eyes) underwent DACP testing with cyan and red stimuli. Analysis addressed peripapillary (4 test locations closest to the optic disc), macular (52 locations), and peripheral (60 locations outside the macula) regions.

Qualitative and quantitative comparison of ERGs with contact lens and adhesive skin electrodes.

Purpose: Traditional ERGs recorded using corneal electrodes can be difficult for some patients to tolerate. In the last several years, adhesive skin electrodes have gained in acceptance. In this report we present a qualitative comparison of waveforms as well as a quantitative analysis of correlation of amplitudes and implicit times of simultaneous ERG recordings using contact lens and skin electrodes.

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Purpose: In ABCA4-associated retinopathy, central atrophy was assessed by spectral domain optical coherence tomography (SD-OCT) and by short-wavelength (SW-AF) and near-infrared (NIR-AF) autofluorescence.

Methods: Patients exhibited a central atrophic lesion characterized by hypoautofluorescence (hypoAF) surrounded either by hyperautofluorescent (hyperAF) rings in both AF images (group 1, 4 patients); or a hyperAF ring in SW-AF but not in NIR-AF images (group 2, 11 patients); or hyperAF rings in neither AF images (group 3, 11 patients). Choroidal hypertransmission and widths of ellipsoid zone (EZ) loss were measured in foveal SD-OCT scans, and in AF images hypoAF and total hypo+hyperAF widths were measured along the same axis.

Structure-function analysis for macular surgery in patients with coexisting glaucoma.

Purpose: To develop methods to assess the effects of epiretinal membranes (ERM) and macular holes (MH) coexisting with glaucoma on pre-operative retinal structure and function and evaluate post-operative outcomes.

Methods: Seven eyes of 7 patients with glaucoma, 6 with ERMs and 1 with MH, were enrolled; 4 underwent vitrectomy for ERM and one for MH. Visual fields (VFs) and optical coherence tomography (OCT) scans were obtained pre- and post-operatively.

CNGB1-related rod-cone dystrophy: A mutation review and update.

Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum to 84 variants in total, including 24 missense variants (two of which may also affect splicing), 21 nonsense, 19 splicing defects (7 at noncanonical positions), 10 small deletions, 1 small insertion, 1 small insertion-deletion, 7 small duplications, and 1 gross deletion.

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

Purpose: To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP).

Methods: Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi Hospital (Florence, Italy). Eleven patients from five independent pedigrees underwent genetic analysis with next-generation sequencing (NGS) confirmed with Sanger sequencing.

Quantitative Fundus Autofluorescence in HCQ Retinopathy.

Purpose: To increase our understanding of the mechanisms underlying hydroxychloroquine (HCQ) retinopathy, analyses by quantitative fundus autofluorescence (qAF) and near-infrared fundus autofluorescence (NIR-AF) were compared to results obtained by recommended screening tests.

Methods: Thirty-one patients (28 females, 3 males) were evaluated with standard automated perimetry and spectral domain optical coherence tomography (SD-OCT); 28 also had multifocal electroretinography (mfERG). Measurement of short-wavelength fundus autofluorescence (SW-AF) by qAF involved the use of an internal fluorescent reference and intensity measurements in eight concentric segments at 7° to 9° eccentricity.

Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

Purpose: To characterize the progression of optical gaps and expand the known etiologies of this phenotype.

Design: Retrospective cohort study.

Methods: Thirty-six patients were selected based on the identification of an optical gap on spectral-domain optical coherence tomography (OCT) from a large cohort of patients (N = 746) with confirmed diagnoses of inherited retinal dystrophy.

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Purpose: To compare morphologic changes on en face images derived from wide-field swept-source optical coherence tomography (ssOCT) to hypo- and hyperautofluorescent (hypoAF, hyperAF) areas on short-wavelength autofluorescence (SW-AF), and near-infrared (NIR)-AF in recessive Stargardt disease (STGD1).

Methods: Wide-field ssOCT cube scans were obtained from 16 patients (16 eyes). Averaged B-scans and SW-AF images were obtained using Spectralis HRA+OCT.

ACUTE ZONAL OCCULT OUTER RETINOPATHY: Structural and Functional Analysis Across the Transition Zone Between Healthy and Diseased Retina.

Purpose: To assess structure and function across the transition zone (TZ) between relatively healthy and diseased retina in acute zonal occult outer retinopathy.

Methods: Six patients (6 eyes; age 22-71 years) with acute zonal occult outer retinopathy were studied. Spectral-domain optical coherence tomography, fundus autofluorescence, near-infrared reflectance, color fundus photography, and fundus perimetry were performed and images were registered to each other.

Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Purpose: The purpose of our study was to investigate morpho-functional features of the preferred retinal location (PRL) and the transition zone (TZ) in a series of patients with recessive Stargardt disease (STGD1).

Methods: Fifty-two STGD1 patients with at least one ABCA4 mutation, atrophy of the central macula (MA) and an eccentric PRL were recruited for the study. Microperimetry, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) were performed.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Purpose: To assess whether carriers of ABCA4 mutations have increased RPE lipofuscin levels based on quantitative fundus autofluorescence (qAF) and whether spectral-domain optical coherence tomography (SD-OCT) reveals structural abnormalities in this cohort.

Methods: Seventy-five individuals who are heterozygous for ABCA4 mutations (mean age, 47.3 years; range, 9-82 years) were recruited as family members of affected patients from 46 unrelated families.

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.

Purpose: To describe a series of patients with Stargardt disease (STGD1) exhibiting a phenotype usually associated with hydroxychloroquine (HCQ) retinopathy on spectral domain-optical coherence tomography (SD-OCT).

Methods: Observational case series from Columbia University Medical Center involving eight patients with genetically-confirmed STGD1. Patients selected for the study presented no history of HCQ use.

Near-infrared autofluorescence: its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease.

Purpose: We compared hypoautofluorescent (hypoAF) areas detected with near-infrared (NIR-AF) and short-wavelength autofluorescence (SW-AF) in patients with recessive Stargardt disease (STGD1) to retinal structure using spectral domain optical coherence tomography (SD-OCT).

Methods: The SD-OCT volume scans, and SW-AF and NIR-AF images were obtained from 15 eyes of 15 patients with STGD1 and registered to each other. Thickness maps of the total retina, receptor-plus layer (R+, from distal border of the RPE to outer plexiform/inner nuclear layer boundary), and outer segment-plus layer (OS+, from distal border of the RPE to ellipsoid zone [EZ] band) were created from SD-OCT scans.

A comparison of structural and functional changes in patients screened for hydroxychloroquine retinopathy.

Purpose: The aims of this retrospective study were to compare the results of recommended screening tests for hydroxychloroquine-related retinal toxicity and analyze disparities between the structural and functional findings.

Methods: Thirty-four patients (31 women and 3 men) were included in the study. All were evaluated with standard automated perimetry using the 10-2 and/or 24-2 visual field program (Zeiss, Meditec), multifocal electroretinography (mfERG), spectral-domain optical coherence tomography (SD-OCT), and short-wavelength fundus autofluorescent imaging (SW-FAF).

Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Purpose: Short-wavelength (SW) fundus autofluorescence (AF) is considered to originate from lipofuscin in retinal pigment epithelium (RPE) and near-infrared (NIR) AF from melanin. In patients with recessive Stargardt disease (STGD1), we correlated SW-AF and NIR-AF with structural information obtained by spectral-domain optical coherence tomography (SD-OCT).

Methods: Twenty-four STGD1 patients (45 eyes; age 8 to 61 years) carrying confirmed disease-associated ABCA4 mutations were studied prospectively.

Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa.

The authors report the use of adaptive-optics scanning laser ophthalmoscopy (AO-SLO) to investigate RHO, D190N autosomal-dominant retinitis pigmentosa in two siblings (11 and 16 years old, respectively). Each patient exhibited distinct hyperautofluorescence patterns in which the outer borders corresponded to inner segment ellipsoid band disruption. Areas within the hyperautofluorescence patterns exhibited normal photoreceptor outer segments and retinal pigment epithelium.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes and loci remain to be identified. We investigated three siblings, born to asymptomatic parents of Italian-American descent, who each presented with atypical RP with systemic features, including facial dysmorphologies, psychomotor developmental delays recognized since early childhood, learning disabilities and short stature.

Fundus-driven perimetry (microperimetry) compared to conventional static automated perimetry: similarities, differences, and clinical applications.

Fundus-driven perimetry, commonly known as microperimetry, is a technique for measuring visual field sensitivity, whilst simultaneously viewing the fundus. In this article, we review the technique, focusing on the MP-1 microperimeter (Nidek Instruments, Inc, Padua, Italy); we compare it with conventional static automated perimetry, emphasizing the importance of understanding the effects of the different stimulus conditions and data analyses on the interpretation of microperimetry data. The clinical applications of the technique, in the evaluation of functional and structural changes that accompany retinal diseases, are illustrated by its use in patients with age-related macular degeneration, Stargardt disease, and retinitis pigmentosa.

Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.

The aim of this study was to investigate visualization of the tapetal-like reflex using current imaging modalities and evaluate SD-OCT changes in known carriers of X-linked retinitis pigmentosa (XLRP); the objective being the development of an optimal protocol for clinicians to identify carriers. Ten XLRP carriers (19 eyes) were examined using color fundus photography, 488 nm reflectance (488-R), near-infrared reflectance (NIR-R), autofluorescence (AF) and spectral domain optical coherence tomography (SD-OCT) imaging (Spectralis SLO-OCT, Heidelberg). Horizontal line scans through the fovea were acquired in all subjects and in a group of 10 age-similar controls.

Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa.

Purpose: To compare near-infrared autofluorescence (NIR-AF) and short-wavelength (SW) AF in retinitis pigmentosa (RP) and assess their relationships to underlying retinal structure and visual function.

Methods: SW-AF, NIR-AF, and spectral domain optical coherence tomography (SD-OCT) images were acquired from 31 patients (31 eyes) with RP and registered to each other. Microperimetry was performed on a subset of 12 patients.