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Life
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Research Updates in Hereditary Eye Diseases
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Research Updates in Hereditary Eye Diseases

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: closed (30 October 2023) | Viewed by 5028

Special Issue Editors

Dr. Kirk Stephenson

E-Mail Website
Guest Editor
1. Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland
2. Department of Ophthalmology & Visual Sciences, University of British Columbia, 2550 Willow Street, Vancouver, BC V5Z 3N9, Canada
Interests: inherited retinal degenerations, retinitis pigmentosa, next generation sequencing, precision medicine, gene therapy
Dr. Sabrina Reinehr

E-Mail Website
Guest Editor
Experimental Eye Research Institute, University Eye Hospital, Ruhr-University Bochum, In der Schornau 23-25, 44892 Bochum, Germany
Interests: glaucoma; retina; neurodegeneration; neuroprotection; immune system
Dr. Laura Whelan

E-Mail Website
Guest Editor
The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland
Interests: inherited eye disease; ophthalmic genetics; genomics; next generation sequencing; retinopathy; rare variants; novel variants

Special Issue Information

Dear Colleagues,

There are more than 350 hereditary eye diseases, including corneal dystrophies, glaucoma, keratoconus, Leber Congenital Amaurosis, retinitis pigmentosa and retinoblastoma, to name just a few. For example, inherited missense mutations in the myocilin (MYOC) gene are linked to primary open-angle glaucoma and thus, MYOC is an attractive target for therapeutic approaches. However, not all mutations in MYOC cause glaucoma, and common variants are expected to be neutral polymorphisms. Although great progress has been made using advanced molecular diagnostic techniques to characterize different genotypes, disease-modifying therapeutic options are slow to progress toward clinical accessibility. Hope for inherited retinal degenerations (IRD) therapeutics, for example, has been rekindled with the success of gene therapy for RPE65-mediated Leber Congenital Amaurosis (Luxturna) and the potential for other gene-specific and broad-access treatments (e.g., neuroprotectants, optogenetics) currently in the clinical trial stage. In this special issue, we aim to create a platform to describe not just the clinical and genetic characteristics of hereditary eye diseases, but practical strategies to provide timely support to patients/families (e.g., counseling, low vision aids/support, family planning, comorbidity management).

This Special Issue is now open for submissions. We welcome all novel basic science, clinical, and translational research in eye diseases with a focus on facilitating equitable access to diagnostics and treatment. Prospective authors should first send a short abstract or tentative title to the Editorial Office. If the editors deem the topic to be appropriate for inclusion in one of the Special Issues, the author will be encouraged to submit a full manuscript.

Dr. Kirk Stephenson
Dr. Sabrina Reinehr
Dr. Laura Whelan
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. Life 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 2600 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.

Published Papers (4 papers)

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Research

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14 pages, 917 KiB  
Article
The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review
by Marcus P. Conway, Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Tomas Burke, Jacqueline Turner, Francois Thai Le, James J. O’Byrne and David J. Keegan
Life 2024, 14(1), 107; https://doi.org/10.3390/life14010107 - 9 Jan 2024
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Abstract
(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidisciplinary team (OG-MDT) allows better efficiency of [...] Read more.
(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidisciplinary team (OG-MDT) allows better efficiency of time and resources to reach diagnoses and facilitate patient needs. (2) Methods: This clinical case series was conducted by a retrospective review of patient records for patients enrolled in the Target 5000 programme and managed by the OG-MDT, at the Mater Hospital Dublin, Ireland (n = 865) (3) Results: Herein we describe clinical cases and how the use of the OG-MDT optimizes care for isolated and syndromic IRD pedigrees. (4) Conclusions: this paper demonstrates the benefits of an OG-MDT to patients with IRDs resulting in the holistic resolution of complex and syndromic cases. Furthermore, we demonstrate that this format can be adopted/developed by similar centres around the world, bringing with it the myriad benefits. Full article
(This article belongs to the Special Issue Research Updates in Hereditary Eye Diseases)
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15 pages, 7512 KiB  
Article
Leber’s Hereditary Optic Neuropathy (LHON): Clinical Experience and Outcomes after Long-Term Idebenone Treatment
by George Baltă, Georgiana Cristache, Andreea Diana Barac, Nicoleta Anton and Ileana Ramona Barac
Life 2023, 13(10), 2000; https://doi.org/10.3390/life13102000 - 30 Sep 2023
Viewed by 1361
Abstract
Background: Leber’s hereditary optic neuropathy (LHON) is a rare disease. Large studies are difficult to conduct; therefore, case reports provide valuable data. Since 2015, patients have been treated with Idebenone. The aim of this paper is to share our experience with diagnosing and [...] Read more.
Background: Leber’s hereditary optic neuropathy (LHON) is a rare disease. Large studies are difficult to conduct; therefore, case reports provide valuable data. Since 2015, patients have been treated with Idebenone. The aim of this paper is to share our experience with diagnosing and managing patients in different stages of LHON. Methods: We designed a case series study, including four patients undergoing genetic testing and ophthalmologic examination. Criteria for Idebenone administration and follow-up were presented. Results: All patients had mutation 11778G>A in MT-ND4. The first patient, an 82-year-old man, with long history of vision loss, had no indication for Idebenone. Two additional cases emerged within the same family: a 40-year-old brother and a 31-year-old sister. Both received Idebenone, with good outcomes only for the female. After a one-year regimen, they were lost to follow-up. The fourth patient, a 46-year-old man, was diagnosed in the subacute stage. Idebenone administration was deferred, allowing progression of visual field defects. After 17 months of treatment, visual improvement appeared. The treatment was continued for 36 months, with short interruptions, resulting in good outcomes. Conclusions: Our study demonstrated positive results with long-term Idebenone use. Contrary to medical literature, our female patient had a favorable evolution, despite the delayed diagnosis. Full article
(This article belongs to the Special Issue Research Updates in Hereditary Eye Diseases)
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13 pages, 3024 KiB  
Article
Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract
by Muhammad Ikram Ullah, Zaira Rehman, Rubina Dad, Abdullah Alsrhani, Muhammad Shakil, Heba Bassiony Ghanem, Ayman Ali Mohammed Alameen, Mohamed Farouk Elsadek, Lienda Bashier Eltayeb, Sajjad Ullah and Muhammad Atif
Life 2023, 13(8), 1788; https://doi.org/10.3390/life13081788 - 21 Aug 2023
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Abstract
Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole [...] Read more.
Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole blood was obtained from four consanguineous families with CC. Genomic DNA was extracted from the blood, and the combination of targeted and Sanger sequencing was used to identify the causative gene. The mutations detected were analyzed in silico for structural and protein–protein interactions to predict their impact on protein activities. The sequencing found a known FYCO1 mutation (c.2206C>T; p.Gln736Term) in autosomal recessive mode in families with CC. Co-segregation analysis showed affected individuals as homozygous and carriers as heterozygous for the mutation and the unaffected as wild-type. Bioinformatics tools uncovered the loss of the Znf domain and structural compactness of the mutant protein. In conclusion, a previously reported nonsense mutation was identified in four consanguineous families with CC. Structural analysis predicted the protein as disordered and coordinated with other structural proteins. The autophagy process was found to be significant for the development of the lens and maintenance of its transparency. The identification of these markers expands the scientific knowledge of CC; the future goal should be to understand the mechanism of disease severity. Ascertaining the genetic etiology of CC in a family member facilitates establishing a molecular diagnosis, unlocks the prospect of prenatal diagnosis in pregnancies, and guides the successive generations by genetic counseling. Full article
(This article belongs to the Special Issue Research Updates in Hereditary Eye Diseases)
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Review

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12 pages, 5781 KiB  
Review
Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7
by Chiara Ciancimino, Mariachiara Di Pippo, Gregorio Antonio Manco, Silvia Romano, Giovanni Ristori, Gianluca Scuderi and Solmaz Abdolrahimzadeh
Life 2023, 13(11), 2169; https://doi.org/10.3390/life13112169 - 6 Nov 2023
Viewed by 900
Abstract
The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 [...] Read more.
The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7. Full article
(This article belongs to the Special Issue Research Updates in Hereditary Eye Diseases)
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