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Study of Inherited Retinal Diseases—Volume II
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Study of Inherited Retinal Diseases—Volume II

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 October 2024 | Viewed by 765

Special Issue Editor

Prof. Dr. Se Joon Woo

E-Mail Website
Guest Editor
Professor of Department of Ophthalmology, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si, Gyeonggi-do 13620, Republic of Korea
Interests: inherited retinal diseases; retinal artery occlusion; age-related macular degeneration; biosimilars; diabetic retinopathy; ocular drug delivery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inherited retinal disease (IRD) is a major cause of bilateral visual decline and blindness worldwide. To date, there is no definitive treatment option for this condition. Recently, there have been advances in the field of genetic diagnosis, and new treatment methods have been introduced, including gene therapy and genome editing. Since the approval of gene therapy for RPE65-related IRD, the future of IRD treatment appears bright, and more patients with IRD may be saved from blindness as technology develops. To reach a better visual outcome for IRD patients, a greater understanding of IRD, including the genetics, mechanism, clinical features, and preclinical and clinical trial results related to the conditions, is needed by physicians, researchers, and patients alike, as well as pharmaceutical companies and governments.

In this Special Issue, we welcome reviews and original articles about the study of IRD. These include, but are not limited to, the genetic and molecular mechanisms of IRD, diagnosis, clinical features and imaging of IRD cases, epidemiology, ethnic variability, preclinical research, and clinical trials of new treatments. We look forward to your contributions.

Prof. Dr. Se Joon Woo
Guest Editor

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. Genes 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.

Keywords

  • inherited retinal diseases
  • retinitis pigmentosa
  • macular dystrophy
  • cone dystrophy
  • genotype
  • gene therapy
  • clinical trial
  • imaging
  • genetic mechanism
  • genome editing
  • phenotype

Published Papers (1 paper)

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Research

13 pages, 1377 KiB  
Article
In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone–Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>A
by Hoda Shamsnajafabadi, Maria Kaukonen, Julia-Sophia Bellingrath, Robert E. MacLaren and Jasmina Cehajic-Kapetanovic
Genes 2024, 15(5), 625; https://doi.org/10.3390/genes15050625 - 15 May 2024
Viewed by 503
Abstract
Pathogenic variants in the Crumbs homolog 1 (CRB1) gene lead to severe, childhood-onset retinal degeneration leading to blindness in early adulthood. There are no approved therapies, and traditional adeno-associated viral vector-based gene therapy approaches are challenged by the existence of multiple CRB1 isoforms. [...] Read more.
Pathogenic variants in the Crumbs homolog 1 (CRB1) gene lead to severe, childhood-onset retinal degeneration leading to blindness in early adulthood. There are no approved therapies, and traditional adeno-associated viral vector-based gene therapy approaches are challenged by the existence of multiple CRB1 isoforms. Here, we describe three CRB1 variants, including a novel, previously unreported variant that led to retinal degeneration. We offer a CRISPR-Cas-mediated DNA base editing strategy as a potential future therapeutic approach. This study is a retrospective case series. Clinical and genetic assessments were performed, including deep phenotyping by retinal imaging. In silico analyses were used to predict the pathogenicity of the novel variant and to determine whether the variants are amenable to DNA base editing strategies. Case 1 was a 24-year-old male with cone–rod dystrophy and retinal thickening typical of CRB1 retinopathy. He had a relatively preserved central outer retinal structure and a best corrected visual acuity (BCVA) of 60 ETDRS letters in both eyes. Genetic testing revealed compound heterozygous variants in exon 9: c.2843G>A, p.(Cys948Tyr) and a novel variant, c.2833G>A, p.(Gly945Arg), which was predicted to likely be pathogenic by an in silico analysis. Cases 2 and 3 were two brothers, aged 20 and 24, who presented with severe cone–rod dystrophy and a significant disruption of the outer nuclear layers. The BCVA was reduced to hand movements in both eyes in Case 2 and to 42 ETDRS letters in both eyes in Case 3. Case 2 was also affected with marked cystoid macular lesions, which are common in CRB1 retinopathy, but responded well to treatment with oral acetazolamide. Genetic testing revealed two c.2234C>T, p.(Thr745Met) variants in both brothers. As G-to-A and C-to-T variants, all three variants are amenable to adenine base editors (ABEs) targeting the forward strand in the Case 1 variants and the reverse strand in Cases 2 and 3. Available PAM sites were detected for KKH-nSaCas9-ABE8e for the c.2843G>A variant, nSaCas9-ABE8e and KKH-nSaCas9-ABE8e for the c.2833G>A variant, and nSpCas9-ABE8e for the c.2234C>T variant. In this case series, we report three pathogenic CRB1 variants, including a novel c.2833G>A variant associated with early-onset cone–rod dystrophy. We highlight the severity and rapid progression of the disease and offer ABEs as a potential future therapeutic approach for this devastating blinding condition. Full article
(This article belongs to the Special Issue Study of Inherited Retinal Diseases—Volume II)
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