Diagnostics

Research

12 pages, 3279 KiB

Open AccessArticle

Superficial and Deep Capillary Plexuses: Potential Biomarkers of Focal Retinal Defects in Eyes Affected by Macular Idiopatic Epiretinal Membranes? A Pilot Study

by Andrea Maria Coppe, Giuliana Lapucci, Luca Buzzonetti, Guido Ripandelli and Giancarlo Iarossi

Diagnostics 2022, 12(12), 3205; https://doi.org/10.3390/diagnostics12123205 - 17 Dec 2022

Viewed by 1058

Abstract

Inner macular layers are the most involved in the retinal distortion caused by idiopathic epiretinal membrane (iERM). They represent the anatomical structures in which the superficial (SCP) and deep (DCP) capillary plexus are embedded. We quantified flow signal (FS) in these capillary plexuses [...] Read more.

Inner macular layers are the most involved in the retinal distortion caused by idiopathic epiretinal membrane (iERM). They represent the anatomical structures in which the superficial (SCP) and deep (DCP) capillary plexus are embedded. We quantified flow signal (FS) in these capillary plexuses using Swept Source OCT angiography to identify possible markers for postoperative outcome. The software ImageJ was used to quantify the FS in a 150 µm radius area around each point analyzed by MAIA microperimeter. In 16 patients with unilateral iERM, focal light sensitivity (FLS) in the para- and perimacular areas was measured to evaluate macular function in 24 points overlapping macular plexuses and compared with normal fellow eyes (FEs). t-Test for independent samples iERM eyes (iERMEs) vs. fellow eyes (FEs) and Pearson correlation coefficient of FS vs. FLS in each point were calculated. A level of p < 0.05 was accepted as statistically significant. As a whole, FLS was significantly higher in FEs vs. ERMEs (p < 0.001); FS in both SCP and DCP was not significantly different between ERMEs and FEs (p = 0.827, p = 0.791). Correlation in focal retinal areas between FLS and FS in ERMEs was significant in SCP (p = 0.002) and not significant in DCP (p = 0.205); in FEs was significant in both SCP (p < 0.001) and DCP (p = 0.022). As previously described, these defective areas were located mainly in sites of distortion of retinal layers; therefore, it can be hypothesized that a focal change in FS, occurring mostly in SCP, could be involved in the onset of the functional defect. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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15 pages, 608 KiB

Open AccessArticle

Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

by Lucia Ziccardi, Lucilla Barbano, Giulio Antonelli, Ettore Cioffi, Antonio Di Renzo, Valeria Gioiosa, Christian Marcotulli, Andrzej Grzybowski, Carlo Casali and Vincenzo Parisi

Diagnostics 2022, 12(12), 3135; https://doi.org/10.3390/diagnostics12123135 - 12 Dec 2022

Viewed by 1161

Abstract

Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typical manifestations [...] Read more.

Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typical manifestations are ocular motility abnormality, optic neuropathy, and retinopathy. Despite the evidence of ophthalmological impairment in FRDA patients, there is a lack of information about the morpho-functional condition of the retina and of the optic pathways in healthy heterozygous carriers of Friedreich’s ataxia (C-FRDA). Ten C-FRDA subjects (providing 20 eyes) and thirty-five Controls (providing 70 eyes) underwent a complete neurological and ophthalmological examination comprehensive of functional (full-field Electroretinogram (ffERG), multifocal Electroretinogram (mfERG), Visual Evoked Potential (VEP), and Pattern Reversal Electroretinogram (PERG)) and morphological assessments (Optical Coherence Tomography, OCT) of the retina, macula, retinal ganglion cells, and visual pathways. The groups’ data were compared using a two-sample t-test. Pearson’s test was used to investigate the morpho-functional correlations. Statistically significant differences (p < 0.01) between C-FRDA and Control eyes for the values of the following parameters were found: ffERG b-wave amplitude, mfERG Response Amplitude Densities, PERG P50 implicit time and P50-N95 amplitude, VEP P100 implicit time, Retinal Nerve Fiber Layer (RNFL) Overall, and Nasal thickness. The values of the OCT macular volume were not statistically different (p > 0.01) between the two Groups. Therefore, our data suggest that, in C-FRDA, a dysfunction of retinal elements without morphological macular impairment may occur. In addition, a morphological impairment of RNFL associated with an abnormal neural conduction along the visual pathways can be also detected. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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10 pages, 1562 KiB

Open AccessArticle

Intravitreal Fluocinolone Acetonide for Diabetic Macular Edema: Long-Term Effect and Structure/Function Correlation

by Angelo Maria Minnella, Martina Maceroni, Claudia Zagami, Elena Quarato, Stanislao Rizzo, Matteo Giarletti, Giorgio Placidi and Benedetto Falsini

Diagnostics 2022, 12(10), 2415; https://doi.org/10.3390/diagnostics12102415 - 6 Oct 2022

Viewed by 1142

Abstract

The long-term effect of intravitreal Fluocinolone acetonide (FAc) on retinal morphology and function in diabetic macular edema (DME) was investigated. Seventeen eyes of twelve consecutive DME patients, treated by intravitreal FAc, were retrospectively evaluated. Retinal morphology was assessed with central macular thickness (CMT). [...] Read more.

The long-term effect of intravitreal Fluocinolone acetonide (FAc) on retinal morphology and function in diabetic macular edema (DME) was investigated. Seventeen eyes of twelve consecutive DME patients, treated by intravitreal FAc, were retrospectively evaluated. Retinal morphology was assessed with central macular thickness (CMT). Retinal function was assessed by best-corrected visual acuity (BCVA) and cone b-wave and photopic negative response (PhNR). The main outcome was a mean change in CMT at month 24. The secondary outcomes were changes in cone b-wave and PhNR at month 24. The incidence of adverse events was also recorded. Mean CMT decreased from 406.52 µm (±138.74) at baseline to 310 µm (±130.39) at 24 months (p = 0.008). No significant changes in the other parameters were found. At baseline, BCVA and PhNR amplitude were negatively correlated (r = −0.55) with CMT. At the end of follow-up, the change in CMT was negatively correlated with baseline CMT (r = −0.53, p = 0.03) and positively correlated with baseline PhNR amplitude (r = 0.58, p < 0.01). A significant, long-term reduction in CMT was observed in DME patients after FAc implant. The anti-edema effect tended to be stronger in patients with the poorest baseline retinal morphology (CMT) and function (PhNR). Structure/function correlations might help to characterize the patients who may benefit from this treatment. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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14 pages, 2924 KiB

Open AccessArticle

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

by Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli and Luca Buzzonetti

Diagnostics 2022, 12(9), 2183; https://doi.org/10.3390/diagnostics12092183 - 9 Sep 2022

Cited by 1 | Viewed by 1410

Abstract

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here, we describe the clinical and [...] Read more.

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here, we describe the clinical and genetic findings of two unrelated pediatric patients with a novel frameshift homozygous variant in the NRL gene. Fundus examinations showed signs of peripheral degeneration in both patients, more severe in Proband 2, with relative sparing of the macular area. Spectral domain optical coherence tomography (SD-OCT) revealed a significant macular involvement with cysts in Proband 1, and minimal foveal alteration with peripheral retina involvement in Proband 2. Visual acuity was abnormal in both patients, but more severely affected in Proband 1 than Proband 2. The electroretinogram recordings showed reduced scotopic, mixed and single flash cone responses, with a typical supernormal S-cone response, meeting the criteria for a clinical diagnosis of ESCS in both patients. The present report expands the clinical and genetic spectrum of NRL-associated ESCS, and confirms the age-independent variability of phenotypic presentation already described in the NR2E3-associated ESCS. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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16 pages, 1778 KiB

Open AccessArticle

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

by Giulio Antonelli, Mariacristina Parravano, Lucilla Barbano, Eliana Costanzo, Matteo Bertelli, Maria Chiara Medori, Vincenzo Parisi and Lucia Ziccardi

Diagnostics 2022, 12(8), 1851; https://doi.org/10.3390/diagnostics12081851 - 31 Jul 2022

Cited by 6 | Viewed by 1570

Abstract

PRPH2 gene mutations are frequently found in inherited retinal dystrophies (IRD) and are associated with a wide spectrum of clinical phenotypes. We studied 28 subjects affected by IRD carrying pathogenic PRPH2 mutations, belonging to 11 unrelated families. Functional tests (best-corrected visual acuity measurement, [...] Read more.

PRPH2 gene mutations are frequently found in inherited retinal dystrophies (IRD) and are associated with a wide spectrum of clinical phenotypes. We studied 28 subjects affected by IRD carrying pathogenic PRPH2 mutations, belonging to 11 unrelated families. Functional tests (best-corrected visual acuity measurement, chromatic test, visual field, full-field, 30 Hz flicker, and multifocal electroretinogram), morphological retino-choroidal imaging (optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence), and clinical data were collected and analyzed. Common primary complaints, with onset in their 40s, were visual acuity reduction and abnormal dark adaptation. Visual acuity ranged from light perception to 20/20 Snellen. Visual field peripheral constriction and central scotoma were found. Chromatic sense was reduced in one third of patients. Electrophysiological tests were abnormal in most of the patients. Choroidal neovascular lesions were detected in five patients. Three novel PRPH2 variants were found in four different families. Based on the present multimodal study, we identified seven distinct PRPH2 phenotypes in 11 unrelated families carrying either different mutations or the same mutation, both within the same family or among them. Fundus autofluorescence modality turned out to be the most adequate imaging method for early recognition of this dystrophy, and the optical coherence tomography angiography was highly informative to promptly detect choroidal neovascularization, even in the presence of the extensive chorioretinal atrophy phenotype. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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19 pages, 1821 KiB

Open AccessArticle

Multifocal Electroretinogram Photopic Negative Response: A Reliable Paradigm to Detect Localized Retinal Ganglion Cells’ Impairment in Retrobulbar Optic Neuritis Due to Multiple Sclerosis as a Model of Retinal Neurodegeneration

by Lucilla Barbano, Lucia Ziccardi, Giulio Antonelli, Carolina Gabri Nicoletti, Doriana Landi, Giorgia Mataluni, Benedetto Falsini, Girolama Alessandra Marfia, Diego Centonze and Vincenzo Parisi

Diagnostics 2022, 12(5), 1156; https://doi.org/10.3390/diagnostics12051156 - 6 May 2022

Cited by 3 | Viewed by 1440

Abstract

The measure of the full-field photopic negative response (ff-PhNR) of light-adapted full-field electroretinogram (ff-ERG) allows to evaluate the function of the innermost retinal layers (IRL) containing primarily retinal ganglion cells (RGCs) and other non-neuronal elements of the entire retina. The aim of this [...] Read more.

The measure of the full-field photopic negative response (ff-PhNR) of light-adapted full-field electroretinogram (ff-ERG) allows to evaluate the function of the innermost retinal layers (IRL) containing primarily retinal ganglion cells (RGCs) and other non-neuronal elements of the entire retina. The aim of this study was to acquire functional information of localized IRL by measuring the PhNR in response to multifocal stimuli (mfPhNR). In this case-control observational and retrospective study, we assessed mfPhNR responses from 25 healthy controls and from 20 patients with multiple sclerosis with previous history of optic neuritis (MS-ON), with full recovery of visual acuity, IRL morphological impairment, and absence of morpho-functional involvement of outer retinal layers (ORL). MfPhNR response amplitude densities (RADs) were measured from concentric rings (R) with increasing foveal eccentricity: 0–5° (R1), 5–10° (R2), 10–15° (R3), 15–20° (R4), and 20–25° (R5) from retinal sectors (superior-temporal (ST), superior-nasal (SN), inferior-nasal (IN), and inferior-temporal (IT)); between 5° and 20° and from retinal sectors (superior (S), temporal (T), inferior (I), and nasal (N)); and within 5° to 10° and within 10° and 20° from the fovea. The mfPhNR RAD values observed in all rings or sectors in MS-ON eyes were significantly reduced (p < 0.01) with respect to control ones. Our results suggest that mfPhNR recordings may detect localized IRL dysfunction in the pathologic condition of selective RGCs neurodegeneration. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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Review

Jump to: Research, Other

19 pages, 10303 KiB

Open AccessReview

Non-Invasive Retinal Imaging Modalities for the Identification of Prognostic Factors in Vitreoretinal Surgery for Full-Thickness Macular Holes

by Cristina Nicolosi, Giulio Vicini, Daniela Bacherini, Dario Giattini, Noemi Lombardi, Claudio Esposito, Stanislao Rizzo and Fabrizio Giansanti

Diagnostics 2023, 13(4), 589; https://doi.org/10.3390/diagnostics13040589 - 5 Feb 2023

Cited by 2 | Viewed by 2177

Abstract

In this review, we will focus on different non-invasive retinal imaging techniques that can be used to evaluate morphological and functional features in full-thickness macular holes with a prognostic purpose. Technological innovations and developments in recent years have increased the knowledge of vitreoretinal [...] Read more.

In this review, we will focus on different non-invasive retinal imaging techniques that can be used to evaluate morphological and functional features in full-thickness macular holes with a prognostic purpose. Technological innovations and developments in recent years have increased the knowledge of vitreoretinal interface pathologies by identifying potential biomarkers useful for surgical outcomes prediction. Despite a successful surgery of full-thickness macular holes, the visual outcomes are often puzzling, so the study and the identification of prognostic factors is a current topic of interest. Our review aims to provide an overview of the current knowledge on prognostic biomarkers identified in full-thickness macular holes by means of different retinal imaging tools, such as optical coherence tomography, optical coherence tomography angiography, microperimetry, fundus autofluorescence, and adaptive optics. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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Other

Jump to: Research, Review

4 pages, 2532 KiB

Open AccessInteresting Images

Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up

by Mariacristina Parravano, Eliana Costanzo, Lucilla Barbano, Pasquale Viggiano, Daniele De Geronimo, Giulio Antonelli, Vincenzo Parisi, Monica Varano and Lucia Ziccardi

Diagnostics 2022, 12(12), 2977; https://doi.org/10.3390/diagnostics12122977 - 28 Nov 2022

Viewed by 959

Abstract

Background: Autosomal-dominant facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy with associated retinal abnormalities such as retinal vessel tortuosity, focal retinal pigment epithelium defect and large telangiectasia vessels. Methods: Case report of an FSHD 16-year-old female referred for blurred vision in both eyes [...] Read more.

Background: Autosomal-dominant facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy with associated retinal abnormalities such as retinal vessel tortuosity, focal retinal pigment epithelium defect and large telangiectasia vessels. Methods: Case report of an FSHD 16-year-old female referred for blurred vision in both eyes (20/40), evening fever and shoulder muscle weakness over the past month preceding assessment. A multimodal assessment including visual acuity (VA), microperimetry (MP), multifocal electroretinogram (mfERG), optical coherence tomography (OCT), fluorescein angiography (FA) and fundus autofluorescence (FAF) was performed. Results: OCT showed pseudocyst macular abnormalities and disruption of the photoreceptor layer with no signs of macular ischemia/exudation. Macular function showed foveal impairment recorded by mfERG and MP as a reduction of the response amplitude density and retinal sensitivity, respectively. No medical treatment was prescribed. After three years, patient’s VA slightly improved to 20/32. OCT showed resolution of bilateral pseudocyst macular changes and persistence of photoreceptor disruption. By contrast, mfERG recordings remained abnormal for impaired foveal function and microperimetry mean sensitivity was reduced as well. Conclusions: This multimodal assessment showed persistent VA impairment at three years follow-up associated to abnormal foveal function and reduced retinal sensitivity, with spontaneous resolution of morphological macular changes, suggesting a retinal neurodegenerative process on the basis of the disease. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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5 pages, 1203 KiB

Open AccessInteresting Images

Middle-Inner Macular Layers Dysfunction in a Case of Stellate Foveomacular Retinoschisis Detected by Abnormal Multifocal Photopic Negative Response Recordings

by Lucilla Barbano, Giulio Antonelli, Mariacristina Parravano, Eliana Costanzo, Vincenzo Parisi and Lucia Ziccardi

Diagnostics 2022, 12(11), 2753; https://doi.org/10.3390/diagnostics12112753 - 10 Nov 2022

Viewed by 968

Abstract

We describe the macular morpho-functional assessment of a 65-year-old man affected by stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR), studied by visual field, SD-OCT, autofluorescence, full-field electroretinogram (ffERG), multifocal electroretinogram (mfERG) and multifocal Photopic Negative Response (mfPhNR) recordings. The typical presentation consists of the [...] Read more.

We describe the macular morpho-functional assessment of a 65-year-old man affected by stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR), studied by visual field, SD-OCT, autofluorescence, full-field electroretinogram (ffERG), multifocal electroretinogram (mfERG) and multifocal Photopic Negative Response (mfPhNR) recordings. The typical presentation consists of the foveal appearance of radial cartwheel pattern for the splitting of the retinal layers at the level of the Henle fiber layer (HFL) and the outer plexiform layer (OPL), perfectly seen by Spectral Domain-Optical Coherence Tomography (SD-OCT). Despite a normal function of the outer retina of the peripheral and central retina evaluated by ffERG and mfERG respectively, we observed a reduced function of the retinal elements involved in the retinoschisis by recording mfPhNR that assesses mainly inner retina function (retinal ganglion cells and their axons). Therefore, it is likely that the observed impaired mfPhNR responses reflect the signaling defects derived from the delaminated middle retina and transmitted to the innermost retinal layers. Full article

(This article belongs to the Special Issue Structure-Function Relationship in Retinal Diseases)

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