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Diagnosis and Treatment of Retinal Dystrophies
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Diagnosis and Treatment of Retinal Dystrophies

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

Deadline for manuscript submissions: closed (31 May 2021) | Viewed by 4904

Special Issue Editor

Dr. Nicolas Leveziel

E-Mail Website
Guest Editor
1. Dpt Ophthalmology CHU Poitiers, Poitiers, France
2. INSERM1084, Poitiers, France
3. CIC 1042, Poitiers, France
4. Vision and Eye Research Institute, School of Medicine, Anglia Ruskin University, Cambridge, UK
Interests: myopia; age-related macular degeneration; retinal dystrophies; pluripotent stem cells

Special Issue Information

Dear Colleagues,

Inherited retinal dystrophies encompass a large spectrum of retinal disorders with various clinical expressions, which are genetically heterogeneous with more than 250 genes involved. These diseases have recently benefited from improvements of molecular genetics, retinal imaging, and novel therapeutic insights. This Special Issue of the Journal of Clinical Medicine entitled “Diagnosis and Treatment of Retinal Dystrophies” will detail the progress of genetic testing in retinal dystrophies, and recent advances in multimodal retinal imaging leading to enhanced retina visualization, more accurate diagnosis, and better-targeted patient follow-up. The contributors to this issue will also focus on numerous therapeutic approaches including gene and cellular therapies, retinal implants, and low vision rehabilitation. Many of the relevant diseases are not yet treatable, but the use of voretigene neparvovec in patients suffering from RPE65-mediated inherited retinal dystrophy shows that many of them could benefit from effective therapies within the coming decade.

Dr. Nicolas Leveziel
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. 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

  • inherited retinal dystrophies
  • retinal diseases
  • stem cells
  • gene therapy
  • cellular therapy
  • multimodal imaging
  • retinitis pigmentosa
  • choroideremia
  • Stargardt disease

Published Papers (2 papers)

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Research

19 pages, 3043 KiB  
Article
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN
by Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura and Tadashi Nakano
J. Clin. Med. 2021, 10(11), 2265; https://doi.org/10.3390/jcm10112265 - 24 May 2021
Cited by 8 | Viewed by 2353
Abstract
Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients [...] Read more.
Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Retinal Dystrophies)
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12 pages, 2023 KiB  
Article
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia
by Adam M Dubis, Wei S Lim, Jasleen K Jolly, Maria Toms, Robert E MacLaren, Andrew R Webster and Mariya Moosajee
J. Clin. Med. 2021, 10(2), 232; https://doi.org/10.3390/jcm10020232 - 11 Jan 2021
Cited by 4 | Viewed by 1846
Abstract
Background: Characterisation of preserved autofluorescence (PAF) area in choroideremia (CHM) and its validity for monitoring disease progression in clinical trials is of importance. Methods: Eighty patients with molecularly confirmed CHM were recruited. PAF area was measured manually by 2 graders and half-life was [...] Read more.
Background: Characterisation of preserved autofluorescence (PAF) area in choroideremia (CHM) and its validity for monitoring disease progression in clinical trials is of importance. Methods: Eighty patients with molecularly confirmed CHM were recruited. PAF area was measured manually by 2 graders and half-life was calculated based on exponential decay model. Results: Mean age at baseline and follow-up examination was 38.1 (range, 10–69) and 40.7 (range, 11–70) years. Mean follow-up interval was 29 months (range, 6–104). The median LogMAR visual acuity was 0.10 (OD) and 0.18 (OS). Interobserver repeatability for PAF area was −0.99 to 1.03 mm2 (−6.46 to 6.49% of area). There was a statistically significant relationship between age and rate of PAF area loss (r2 = 0.28, p = 0.012). The half-life for PAF area was 13.7 years (range, 1.7–216.0 years). The correlation between half-life and age was stronger than between half-life and log transformed baseline PAF area, although neither was statistically significant. Conclusions: The intra- and inter-observer PAF area measurement variability provides a baseline change, which must be overcome in a clinical trial if this metric were to be used. Treatments must slow progression to alter the exponential decay in a timely manner accounting for naturally slow progression patterns. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Retinal Dystrophies)
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