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Medicina
Special Issues
Diagnosis and Treatment of Inherited Retinal Degenerations
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Diagnosis and Treatment of Inherited Retinal Degenerations

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: closed (20 August 2021) | Viewed by 14434

Special Issue Editors

Prof. Dr. Enzo Maria Vingolo

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Guest Editor
Department of Medical-Surgical Sciences and Biotechnologies, U.O.C. Ophthalmology, Sapienza University of Rome, Via Firenze 1, 04019 Terracina, Italy
Interests: retinitis pigmentosa; inherited retinal degenerations; retinal electrophysiology; low vision; visual rehabilitation; legal ophthalmology
Special Issues, Collections and Topics in MDPI journals
Dr. Laura Contento

E-Mail Website
Co-Guest Editor
Department of Medical-Surgical Sciences and Biotechnologies, U.O.C. Ophthalmology, Sapienza University of Rome, Via Firenze 1, 04019 Terracina, Italy
Interests: medical retina; retinal imaging; macular degenerations; OCT; fluorescein angiography

Special Issue Information

Inherited retinal degenerations (IRDs) are some of the most common hereditary causes of progressive vision loss. The biggest current challenge is finding a therapeutic approach that can change the natural history of these diseases. Nevertheless, therapy research cannot prescind from the awareness of the genetic and clinical heterogeneity of IRDs. For example, about a hundred different genetic defects responsible for retinitis pigmentosa (RP) have been described. Different mutations in various critical genes give rise to different subtypes of the disease, each associated with different clinical presentations and prognoses. For this reason, we can no longer speak of “retinitis pigmentosa” as a single pathology. Instead, we should include it as an IRD, a large group of retinal diseases sharing several clinical features. Therefore, the correct scientific approach to IRDs is to consider the many different molecular targets towards which research should be directed.

The purpose of this Special Issue is to discuss the genetic and medical diagnostic criteria for IRDs (and RP in particular), as well as to explore the wide spectrum of clinical signs associated with the different retinal degeneration subtypes. We are especially interested in examining any clinical features, including anamnestic, ophthalmoscopic, and electro functional findings, that may provide clinicians with useful “diagnostic pearls”. Lastly, we encourage scientific debates about therapeutic targets for IRDs.

Prof. Dr. Enzo Maria Vingolo
Dr. Laura Contento
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • inherited retinal degenerations
  • retinitis pigmentosa
  • electroretinography
  • rod–cone dystrophy
  • cone–rode dystrophy
  • IRD gene therapy
  • IRD visual rehabilitation
  • atypical retinitis pigmentosa
  • retinitis pigmentosa new perspectives

Published Papers (6 papers)

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Research

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9 pages, 582 KiB  
Article
The Epidemiological and Clinical Findings from the Latvian Registry of Primary Congenital Glaucoma and Evaluation of Prognostic Factors
by Eva Elksne, Kristine Baumane, Arturs Ozolins and Sandra Valeina
Medicina 2021, 57(1), 44; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57010044 - 07 Jan 2021
Cited by 5 | Viewed by 1717
Abstract
Background and objectives: primary congenital glaucoma (PCG) is a rare, potentially blinding disease that affects children worldwide. The aim of the study was to describe the epidemiological and clinical characteristics, outcomes for newly diagnosed patients with PCG, as well as evaluate the [...] Read more.
Background and objectives: primary congenital glaucoma (PCG) is a rare, potentially blinding disease that affects children worldwide. The aim of the study was to describe the epidemiological and clinical characteristics, outcomes for newly diagnosed patients with PCG, as well as evaluate the prognostic factors that are related to the outcomes. Materials and Methods: a retrospective cohort study was conducted at a tertiary referral centre among patients diagnosed with PCG. Evaluation of the clinical data was performed preoperatively at three, six, and 12 months after the surgery and at the last follow-up. Results: during the 15 years of follow-ups, 24 eyes of 18 patients were diagnosed with PCG. Unilateral and bilateral PCG constituted 50% of cases each. A slight male predominance was observed (55.6% vs. 44.4%), with a relative risk of 1.3. The incidence of PCG was 1:19,033 live births. The mean age of the patients at the time of diagnosis was 10.1 ± 10.0 months, with a diagnostic delay of 2.0 ± 1.9 months. Furthermore, 75% of patients indicated an enlargement of an eyeball, followed by excessive tearing (58.3%) and corneal opacity (41.7%). After 85.9 ± 51.2 months, the mean intraocular pressure (IOP) value was 14.6 ± 4.9 mmHg. Surgical treatment provided sufficient IOP control in 75% of PCG cases at the last follow-up visit. The only prognostic factor that was related to the outcome of IOP control that was statistically significant was axial length at the time of diagnosis. Conclusions: the incidence of PCG in Latvia was 5.3 patients per 100,000 live births. PCG was more common among males than females with a relative risk of 1.3. The enlargement of an eyeball was the leading clinical sign. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)
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13 pages, 888 KiB  
Article
Association between Light-Induced Dynamic Dilation of Retinal Vessels and Echocardiographic Parameters of the Left Ventricular Function in Hypertensive Patients
by Małgorzata Peregud-Pogorzelska, Małgorzata Zielska, Miłosz Piotr Kawa, Katarzyna Babiak, Krzysztof Safranow, Bogusław Machaliński and Anna Machalińska
Medicina 2020, 56(12), 704; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56120704 - 17 Dec 2020
Cited by 2 | Viewed by 1742
Abstract
Background and Objectives: The goal was to evaluate the association of dynamic retinal vessel analysis (DVA) with echocardiographic parameters assessing systolic and diastolic function of the left ventricle in hypertension (HT) patients with preserved left ventricle ejection fraction. Materials and Methods: [...] Read more.
Background and Objectives: The goal was to evaluate the association of dynamic retinal vessel analysis (DVA) with echocardiographic parameters assessing systolic and diastolic function of the left ventricle in hypertension (HT) patients with preserved left ventricle ejection fraction. Materials and Methods: This observational retrospective study recruited 36 patients with HT and 28 healthy controls. Retinal vessel diameter and reactions to flicker light were examined. Each patient was examined with echocardiography to assess left ventricular systolic and diastolic function. Results: Multivariate analysis revealed that hypertension was an independent factor associated with lower flicker-induced arterial vasodilatation (β = −0.31, p = 0.029). In the HT group, there was a significant positive association between left ventricular ejection fraction and flicker-induced arterial vasodilation (Rs = +0.31, p = 0.007). Additionally, end-diastolic left ventricular diameter negatively correlated with both arterial (Rs = −0.26, p = 0.02) and venous (Rs = −0.27, p = 0.02) flicker responses. Additionally, the echocardiographic characteristics of the left atrium (LA) remodeling in the course of HT, including the area of the LA and its antero-posterior dimension, were both negatively correlated with the arterial flicker response (Rs = −0.34, p = 0.003; Rs = −0.33, p = 0.004, respectively). From tissue Doppler parameters, the left ventricular filling index E/e’ negatively correlated with AVR (arteriovenous ratio) values (Rs = −0.36, p = 0.002). Conclusions: We revealed that systolic and diastolic function of the left ventricle in hypertensive patients is associated with retinal microvascular function. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)
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Review

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14 pages, 341 KiB  
Review
Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies
by Alessandro Abbouda, Filippo Avogaro, Mariya Moosajee and Enzo Maria Vingolo
Medicina 2021, 57(1), 64; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57010064 - 12 Jan 2021
Cited by 11 | Viewed by 3183
Abstract
Background and objectives: Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations involving the CHM gene. Gene therapy has entered late-phase clinical trials, although there have been variable results. This review gives a summary on the outcomes of phase I/II [...] Read more.
Background and objectives: Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations involving the CHM gene. Gene therapy has entered late-phase clinical trials, although there have been variable results. This review gives a summary on the outcomes of phase I/II CHM gene therapy trials and describes other potential experimental therapies. Materials and Methods: A Medline (National Library of Medicine, Bethesda, MD, USA) search was performed to identify all articles describing gene therapy treatments available for CHM. Results: Five phase I/II clinical trials that reported subretinal injection of adeno-associated virus Rab escort protein 1 (AAV2.REP1) vector in CHM patients were included. The Oxford study (NCT01461213) included 14 patients; a median gain of 5.5 ± 6.8 SD (−6 min, 18 max) early treatment diabetic retinopathy study (ETDRS) letters was reported. The Tubingen study (NCT02671539) included six patients; only one patient had an improvement of 17 ETDRS letters. The Alberta study (NCT02077361) enrolled six patients, and it reported a minimal vision change, except for one patient who gained 15 ETDRS letters. Six patients were enrolled in the Miami trial (NCT02553135), which reported a median gain of 2 ± 4 SD (−1 min, 10 max) ETDRS letters. The Philadelphia study (NCT02341807) included 10 patients; best corrected visual acuity (BCVA) returned to baseline in all by one-year follow-up, but one patient had −17 ETDRS letters from baseline. Overall, 40 patients were enrolled in trials, and 34 had 2 years of follow-up, with a median gain of 1.5 ± 7.2 SD (−14 min, 18 max) in ETDRS letters. Conclusions: The primary endpoint, BCVA following gene therapy in CHM, showed a marginal improvement with variability between trials. Optimizing surgical technique and pre-, peri-, and post-operative management with immunosuppressants to minimize any adverse ocular inflammatory events could lead to reduced incidence of complications. The ideal therapeutic window needs to be addressed to ensure that the necessary cell types are adequately transduced, minimizing viral toxicity, to prolong long-term transgenic potential. Long-term efficacy will be addressed by ongoing studies. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)

Other

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6 pages, 7946 KiB  
Case Report
Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas
by Izabella Karska-Basta, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek and Natalia Mackiewicz
Medicina 2021, 57(9), 892; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57090892 - 27 Aug 2021
Cited by 1 | Viewed by 2093
Abstract
We report a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. A 23-year-old man presented with sudden visual deterioration in the left eye (LE). The fundus findings revealed bone spicule-shaped pigment deposits, a slightly pale optic disc, [...] Read more.
We report a unique case of coexisting pigmentary retinopathy and ocular toxoplasmosis in a young male patient. A 23-year-old man presented with sudden visual deterioration in the left eye (LE). The fundus findings revealed bone spicule-shaped pigment deposits, a slightly pale optic disc, arteriole constriction, cystoid macular edema with an epiretinal membrane, and two small inflammatory chorioretinal scars in the right eye, with a concentric narrowing of the visual field and a nonrecordable multifocal electroretinogram (ERG). An active inflammatory lesion at the border of a pre-existing chorioretinal scar in the macula was found in the LE, with a central scotoma in the visual field. Moreover, the patient tested positive for anti-Toxoplasma gondii immunoglobulin G antibodies and showed positive results in polymerase chain reaction testing of aqueous humor. Fluorescein angiography revealed hyperfluorescence in the early phase with fluorescein leakage. A multifocal ERG of the LE showed selective loss of responses from the central 10 degrees. Genetic testing revealed heterozygosity in the RP1 and CELSR1 genes. Our case illustrates challenges in the diagnosis of unilateral pigmentary retinopathy. Based on the typical toxoplasmic lesions in the LE and two scars likely caused by inflammation, our patient was diagnosed with pigmentary retinopathy probably related to toxoplasmosis. Genetic consultation did not confirm the diagnosis of retinitis pigmentosa, but more advanced tests might be needed to definitively exclude it. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)
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6 pages, 873 KiB  
Case Report
The Role of Optical Coherence Tomography Angiography (OCTA) in Detecting Choroidal Neovascularization in Different Stages of Best Macular Dystrophy: A Case Series
by Yaqoob Qaseem, Olga German, Maria Vittoria Cicinelli and Rukhsana G. Mirza
Medicina 2021, 57(3), 213; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030213 - 27 Feb 2021
Cited by 3 | Viewed by 2343
Abstract
Best macular dystrophy (BMD) is an autosomal dominant macular dystrophy of childhood onset characterized by bilateral and symmetric vitelliform lesions. Several stages of disease have been well-described in the literature. Choroidal neovascularization (CNV) has traditionally been considered a hallmark of end-stage disease, and [...] Read more.
Best macular dystrophy (BMD) is an autosomal dominant macular dystrophy of childhood onset characterized by bilateral and symmetric vitelliform lesions. Several stages of disease have been well-described in the literature. Choroidal neovascularization (CNV) has traditionally been considered a hallmark of end-stage disease, and anti-vascular endothelial growth factor (anti-VEGF) agents have been used to improve visual prognosis. While CNV was historically detected with fluorescein angiography, optical coherence tomography angiography (OCTA) has recently been employed as a novel mechanism for identifying CNV in BMD. In this case series, we discuss our institutional experience with using OCTA to detect CNV in BMD and contextualize this experience within the broader emerging literature. While OCTA allows for the identification of CNV in less severe stages of BMD, the management of this CNV remains uncertain. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)
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15 pages, 5157 KiB  
Case Report
A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review
by Rasa Liutkeviciene, Agne Sidaraite, Lina Kuliaviene, Brigita Glebauskiene, Neringa Jurkute, Lina Aluzaite-Baranauskiene, Arvydas Gelzinis and Reda Zemaitiene
Medicina 2021, 57(3), 202; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030202 - 26 Feb 2021
Cited by 2 | Viewed by 2714
Abstract
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to [...] Read more.
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Inherited Retinal Degenerations)
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