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Clinical Diagnosis and Treatment of Retinal Degeneration
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Clinical Diagnosis and Treatment of Retinal Degeneration

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 20 August 2024 | Viewed by 6128

Special Issue Editors

Dr. Hossein Ameri

E-Mail Website
Guest Editor
Department of Ophthalmology, USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90007, USA
Interests: inherited retinal disease; retinal vascular disease; gene therapy, retinal angiogenesis; drug delivery
Special Issues, Collections and Topics in MDPI journals
Dr. Christine Nichols Kay

E-Mail Website
Guest Editor
Vitreoretinal Associates, Gainesville, FL 32607, USA
Interests: inherited retinal disease; genetic testing; subretinal gene therapy

Special Issue Information

Dear Colleagues,

Retinal degeneration is a broad term used for conditions that generally result in the loss of photoreceptors and retinal pigment epithelial cells and ultimately lead to vision loss. The acquired form, age-related macular degeneration, is the leading cause of irreversible vision loss in the elderly in the developed world. The inherited forms, on the other hand, are quite rare but may lead to profound vision loss.

This Special Issue aims to present the latest clinical research on diagnostic modalities that are currently in clinical practice or being evaluated for future use in retinal degeneration including visual electrophysiology, retinal imaging and genetic testing. It also aims to expand our knowledge about current and future treatments including chemical, gene therapy and stem cell transplantation. The following are some examples of topics of interest.

  • Dry age-related macular degeneration
  • Inherited Retinal Degeneration of any form such as:
  • Retinitis Pigmentosa, syndromic and non syndromic
  • Stardardt Disease
  • Leber Congential Amaurosis
  • Choroideremia
  • Best Disease

Dr. Hossein Ameri
Dr. Christine Nichols Kay
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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

  • retinal degeneration
  • age-related macular degeneration
  • retinitis pigmentosa
  • stargardt disease
  • gene therapy
  • stem cell transplantation
  • genetic testing
  • fundus Autofluorescence
  • OCT

Published Papers (4 papers)

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Research

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16 pages, 3109 KiB  
Article
Retinitis Pigmentosa Masquerades: Case Series and Review of the Literature
by Abinaya Thenappan, Arjun Nanda, Chang Sup Lee and Sun Young Lee
J. Clin. Med. 2023, 12(17), 5620; https://doi.org/10.3390/jcm12175620 - 28 Aug 2023
Viewed by 1788
Abstract
Retinitis pigmentosa (RP) displays a broad range of phenotypic variations, often overlapping with acquired retinal diseases. Timely recognition and differentiation of RP masquerades is paramount due to the treatable nature of many such conditions. This review seeks to present examples of pseudo-RP cases [...] Read more.
Retinitis pigmentosa (RP) displays a broad range of phenotypic variations, often overlapping with acquired retinal diseases. Timely recognition and differentiation of RP masquerades is paramount due to the treatable nature of many such conditions. This review seeks to present examples of pseudo-RP cases and provide a comprehensive overview of RP masquerades. We first present two pseudo-RP cases, including comprehensive clinical histories and multimodal retinal imaging, to highlight the important role of accurate diagnoses that subsequently steered effective intervention. Subsequently, we conduct an in-depth review of RP masquerades to provide valuable insights into their key distinguishing features and management considerations. The recent approval of ocular gene therapy and the development of investigational gene-based treatments have brought genetic testing to the forefront for RP patients. However, it is important to note that genetic testing currently lacks utility as a screening tool for inherited retinal diseases (IRDs), including RP. The integrity of a precise clinical assessment remains indispensable for the diagnosis of both RP and RP masquerade conditions, thereby facilitating prompt intervention and appropriate management strategies. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Retinal Degeneration)
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10 pages, 213 KiB  
Article
Current Assistive Devices Usage and Recommendations for a Future Artificial Vision Prosthesis among Patients with Severe Visual Impairment Due to Inherited Retinal Diseases
by Sophia Sidhu, Patrice J. Persad, Byron L. Lam, Kasey L. Zann and Ninel Z. Gregori
J. Clin. Med. 2023, 12(16), 5283; https://doi.org/10.3390/jcm12165283 - 14 Aug 2023
Cited by 1 | Viewed by 980
Abstract
Patients with inherited retinal diseases (IRDs) utilize various adaptive techniques and devices designed to assist them with activities of daily living (ADLs). The purpose of this study was to assess the assistive devices used by patients with IRDs, the difficulties they face despite [...] Read more.
Patients with inherited retinal diseases (IRDs) utilize various adaptive techniques and devices designed to assist them with activities of daily living (ADLs). The purpose of this study was to assess the assistive devices used by patients with IRDs, the difficulties they face despite these devices, and their recommendations for a future visual prosthesis. In collaboration with blind patients, an online survey was developed and administered to adults with IRDs and visual acuities of 20/400 to no light perception in the better-seeing eye. We analyzed data from 121 survey respondents (aged 18 to >80 years). Five respondents were Argus II prosthesis recipients. The most commonly used aids were cellular phones/tablets for reading (63.6%) as well as a sighted guide (75.0%) and a cane (71.4%) for mobility. Despite current assistive devices, participants reported continued difficulty with ADLs. Improved navigation, reading, and facial recognition were ranked the most desirable features for future visual prostheses. Argus II recipients suggested technology with improved ability to recognize objects and obstacles, detect movement, and cut out busy backgrounds. These insights are valuable in shaping the design of future prosthetic devices tailored to the needs of IRD patients. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Retinal Degeneration)
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Review

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23 pages, 7315 KiB  
Review
Retinal Imaging Findings in Inherited Retinal Diseases
by Giulia Corradetti, Aditya Verma, Jasaman Tojjar, Louay Almidani, Deniz Oncel, Mehdi Emamverdi, Alec Bradley, Sophiana Lindenberg, Muneeswar Gupta Nittala and SriniVas R. Sadda
J. Clin. Med. 2024, 13(7), 2079; https://doi.org/10.3390/jcm13072079 - 03 Apr 2024
Viewed by 970
Abstract
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases [...] Read more.
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Retinal Degeneration)
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19 pages, 4746 KiB  
Review
Updates on Emerging Interventions for Autosomal Recessive ABCA4-Associated Stargardt Disease
by Liang Wang, Serena M. Shah, Simran Mangwani-Mordani and Ninel Z. Gregori
J. Clin. Med. 2023, 12(19), 6229; https://doi.org/10.3390/jcm12196229 - 27 Sep 2023
Viewed by 1715
Abstract
Autosomal recessive Stargardt disease (STGD1) is an inherited retinal degenerative disease associated with a mutated ATP-binding cassette, subfamily A, member 4 (ABCA4) gene. STGD1 is the most common form of juvenile macular degeneration with onset in late childhood to early or [...] Read more.
Autosomal recessive Stargardt disease (STGD1) is an inherited retinal degenerative disease associated with a mutated ATP-binding cassette, subfamily A, member 4 (ABCA4) gene. STGD1 is the most common form of juvenile macular degeneration with onset in late childhood to early or middle adulthood and causes progressive, irreversible visual impairment and blindness. No effective treatment is currently available. In the present article, we review the most recent updates in clinical trials targeting the management of STGD1, including gene therapy, small molecule therapy, and stem cell therapy. In gene therapy, dual adeno-associated virus and non-viral vectors have been successful in delivering the human ABCA4 gene in preclinical studies. For pharmaceutical therapies ALK-001, deuterated vitamin A shows promise with preliminary data for phase 2 trial, demonstrating a decreased atrophy growth rate after two years. Stem cell therapy using human pluripotent stem cell-derived retinal pigment epithelium cells demonstrated long-term safety three years after implantation and visual acuity improvements in the first two years after initiation of therapy. Many other treatment options have ongoing investigations and clinical trials. While multiple potential interventions have shown promise in attenuating disease progression, further exploration is necessary to demonstrate treatment safety and efficacy. Full article
(This article belongs to the Special Issue Clinical Diagnosis and Treatment of Retinal Degeneration)
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