Special Issue "Genetics in Inherited Retinal Diseases"
Deadline for manuscript submissions: 20 October 2021.
2. Nuffield Laboratory of Ophthalmology, NDCN, University of Oxford, Oxford, UK
Interests: gene therapy; vitreoretinal surgery; genetics; retina
With the first approved gene therapy for an inherited retinal disease (IRD), the genetics underlying these blinding conditions have received considerable attention. Together with technological advances, this new focus helps to gain momentum towards improved access to molecular genetic diagnostics and further academic work on existing knowledge gaps.
This Special Issue aims to provide a snapshot of some of the current IRDs in focus of translational efforts. Contributions might shed light on the genetic heterogeneity of mutations found in a specific disease gene, explore genotype-phenotype correlations, characterise model systems reflecting the genetic pathology, diagnostic biomarkers, pathophysiological mechanisms, and novel therapeutic approaches. To progress in the knowledge of such intricate issues, contributions by experts in the field in the form of research papers and critical reviews are called for.
Prof. Dr. M. Dominik Fischer
Prof. Dr. Susan Downes
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 papers will be 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 2000 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.
- inherited retinal diseases
- genetic therapies
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
1.title: Clinical and genetic study of X-linked juvenile retinoschisis in the Czech population
abstract: Purpose: To identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes including natural history in some cases.
Methods: 21 affected males from 17 families were included in the study. The coding region of the RS1 gene was directly sequenced and segregation of the identified mutations was performed in available family members. All patients underwent ophthalmic evaluation, including spectral domain optical coherence tomography (SD-OCT). One patient had optical coherence tomography angiography (OCTA ).
Results: In total, 12 disease-causing variants within RS1 were identified, of these c.20del, c.275G>A, c.[375_379del;386A>T], c.539C>A, c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeated SD-OCT examinations documented in four eyes transition from cystoid macular lesions to macular atrophy in their fourth decade of life. Three individuals were treated with topical dorzolamide and in two of them complete diminishing of cystic macular lesions bilaterally was achieved after 3 months of administration, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one patient. OCTA confirmed vascular abnormalities in the deep capillary plexus and widening of foveal avascular zone.
Conclusions: The first study reporting on XLRS in the Czech population further expands the spectrum of RS1 pathogenic variants. Misdiagnosis of XLRS for uveitis is not uncommon therefore identification of disease-causing mutations is of great benefit to the affected individuals.