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Research on Inherited Retinal Dystrophies
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Research on Inherited Retinal Dystrophies

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

Deadline for manuscript submissions: closed (25 February 2023) | Viewed by 8552

Special Issue Editors

Prof. Dr. Isabelle Meunier

E-Mail Website
Guest Editor
Hop Gui Chauliac, Ctr Reference Malad Sensorielles Genet, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, U1051, Montpellier, France
Interests: rod-cone dystrophies; cone-rod dystrophies; macular dystrophies; stationnary congenital dystrophies; Leber congenital amaurosis; syndromic retinal dystrophies
Dr. Vasiliki Kalatzis

E-Mail Website
Co-Guest Editor
INM, University of Montpellier, Inserm, Montpellier, France
Interests: IRDs; iPSC-derived RPE; retinal organoids; CRISPR/Cas

Special Issue Information

Dear Colleagues,

Genes has decided to dedicate a Special Issue in 2022 to Inherited retinal dystrophies. Dr Vasiliki Kalatzis and I are pleased to work with you on this special issue dedicated to these challenging disorders. It is highly important to share our knowledge of these rare inherited retinal dystrophies that can appear “dark” for our colleagues in terms of clinical, pathophysiological and research aspects.

The intent of the Special Issue is to simply describe the novel entities discovered and the advances made by the development of i) next generation sequencing, ii) pertinent cell models, such as iPSC-derived retinal organoids, and iii) novel therapies, ranging from pharmacological to molecular. We invite you to take part in this Special Issue with a scientific contribution. The manuscripts will, as always, be subjected to examination by specialized reviewers to guarantee their scientific acceptability.

Prof. Dr. Isabelle Meunier
Dr. Vasiliki Kalatzis
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. 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

  • rod-cone dystrophies
  • cone-rod dystrophies
  • macular dystrophies
  • stationary retinal dystrophies
  • Leber congenital amaurosis
  • syndromic retinal dystrophies
  • CRISPR/Cas9
  • human retinal organoids
  • human ipsc and rpe
  • gene replacement
  • anti-oligosensenucleotides

Published Papers (4 papers)

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Research

11 pages, 994 KiB  
Article
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
by Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier and João Pedro Marques
Genes 2023, 14(4), 830; https://0-doi-org.brum.beds.ac.uk/10.3390/genes14040830 - 30 Mar 2023
Viewed by 1227
Abstract
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1 [...] Read more.
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed CNGB1-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the CNGB1 gene and expands the mutational spectrum of CNGB1-related disease by reporting two novel variants. Full article
(This article belongs to the Special Issue Research on Inherited Retinal Dystrophies)
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14 pages, 7657 KiB  
Article
SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium
by Guillaume Olivier, Philippe Brabet, Nelly Pirot, Morgane Broyon, Laurent Guillou, Chantal Cazevieille, Chamroeun Sar, Melanie Quiles, Emmanuelle Sarzi, Marie Pequignot, Ervann Andreo, Agathe Roubertie, Isabelle Meunier, Agnès Muller, Vasiliki Kalatzis and Gaël Manes
Genes 2022, 13(9), 1508; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13091508 - 23 Aug 2022
Cited by 3 | Viewed by 1587
Abstract
Several pathogenic variants have been reported in the IMPG1 gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). IMPG1 and its paralog IMPG2 encode for two proteoglycans, SPACR and SPACRCAN, respectively, which are the main components of [...] Read more.
Several pathogenic variants have been reported in the IMPG1 gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). IMPG1 and its paralog IMPG2 encode for two proteoglycans, SPACR and SPACRCAN, respectively, which are the main components of the interphotoreceptor matrix (IPM), the extracellular matrix surrounding the photoreceptor cells. To determine the role of SPACR in the pathological mechanisms leading to RP and VMD, we generated a knockout mouse model lacking Impg1, the mouse ortholog. Impg1-deficient mice show abnormal accumulation of autofluorescent deposits visible by fundus imaging and spectral-domain optical coherence tomography (SD-OCT) and attenuated electroretinogram responses from 9 months of age. Furthermore, SD-OCT of Impg1−/− mice shows a degeneration of the photoreceptor layer, and transmission electron microscopy shows a disruption of the IPM and the retinal pigment epithelial cells. The decrease in the concentration of the chromophore 11-cis-retinal supports this loss of photoreceptors. In conclusion, our results demonstrate the essential role of SPACR in maintaining photoreceptors. Impg1−/− mice provide a novel model for mechanistic investigations and the development of therapies for VMD and RP caused by IMPG1 pathogenic variants. Full article
(This article belongs to the Special Issue Research on Inherited Retinal Dystrophies)
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16 pages, 6443 KiB  
Article
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
by Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarina Stingl and Eberhart Zrenner
Genes 2022, 13(7), 1218; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13071218 - 08 Jul 2022
Cited by 5 | Viewed by 2692
Abstract
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthalmic examination including visual acuity [...] Read more.
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthalmic examination including visual acuity and color vision testing, electroretinography (ERG), visually evoked potential recording (VEP), fundus examination, and spectral domain optical coherence tomography (SD-OCT). Adaptive optics flood illumination ophthalmoscopy was performed in five patients. All patients had received diagnostic genetic testing and were selected upon the presence of apparent biallelic variants in known BBS-associated genes. All patients had retinal dystrophy with morphologic changes of the retina. Visual acuity decreased from ~0.2 (decimal) at age 5 to blindness 0 at 50 years. Visual field examination could be performed in only half of the patients and showed a concentric constriction with remaining islands of function in the periphery. ERG recordings were mostly extinguished whereas VEP recordings were reduced in about half of the patients. The cohort of patients showed 51 different likely biallelic mutations—of which 11 are novel—in 12 different BBS-associated genes. The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles). The phenotype associated with the different BBS-associated genes and genotypes in our cohort is heterogeneous, with diverse features without genotype–phenotype correlation. The results confirm and expand our knowledge of this rare disease. Full article
(This article belongs to the Special Issue Research on Inherited Retinal Dystrophies)
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15 pages, 1897 KiB  
Article
The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism
by Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, Benoît Pinson, Ivet Gazova, Etienne Gontier, Fanny Decoeur, Lisa McKie, Ian J. Jackson, Benoît Arveiler and Sophie Javerzat
Genes 2022, 13(7), 1164; https://0-doi-org.brum.beds.ac.uk/10.3390/genes13071164 - 27 Jun 2022
Cited by 2 | Viewed by 2111
Abstract
We have recently identified DCT encoding dopachrome tautomerase (DCT) as the eighth gene for oculocutaneous albinism (OCA). Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenotype in Dct−/− mice. We show [...] Read more.
We have recently identified DCT encoding dopachrome tautomerase (DCT) as the eighth gene for oculocutaneous albinism (OCA). Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenotype in Dct−/− mice. We show that their retinal pigmented epithelium (RPE) is severely hypopigmented from early stages, contrasting with the darker melanocytic tissues. Multimodal imaging reveals specific RPE cellular defects. Melanosomes are fewer with correct subcellular localization but disrupted melanization. RPE cell size is globally increased and heterogeneous. P-cadherin labeling of Dct−/− newborn RPE reveals a defect in adherens junctions similar to what has been described in tyrosinase-deficient Tyrc/c embryos. The first intermediate of melanin biosynthesis, dihydroxyphenylalanine (L-Dopa), which is thought to control retinogenesis, is detected in substantial yet significantly reduced amounts in Dct−/− postnatal mouse eyecups. L-Dopa synthesis in the RPE alone remains to be evaluated during the critical period of retinogenesis. The Dct−/− mouse should prove useful in understanding the molecular regulation of retinal development and aging of the hypopigmented eye. This may guide therapeutic strategies to prevent vision deficits in patients with albinism. Full article
(This article belongs to the Special Issue Research on Inherited Retinal Dystrophies)
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