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Biomedicines
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Ophthalmic Genetics: Unraveling the Genomics of Eye Disorders
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Ophthalmic Genetics: Unraveling the Genomics of Eye Disorders

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 31 January 2026 | Viewed by 1117

Special Issue Editor

Dr. Raffaella Cascella

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Guest Editor
Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Via Ardeatina 306-354, 00179 Rome, Italy
Interests: ophthalmic genetics

Special Issue Information

Dear Colleagues,

The study of eye diseases is a rapidly evolving field that aims to understand the genetic basis of these conditions, ranging from common (glaucoma and age-related macular degeneration) to rare (retinitis pigmentosa and enhanced S-cone syndrome). By studying the genetic background of ocular disorders, researchers have been able to identify the molecular pathways that contribute to the onset and progression of disease. In addition, the introduction of genetic testing has enabled early diagnosis and the implementation of personalized treatment approaches. In this regard, the implementation of innovative tools (third generation sequencing and artificial intelligence technologies) has led to the more precise identification of pathogenic variants and enhanced gene therapy options. This knowledge has the potential to improve patient care and preventive strategies, and reduce the global burden of blindness and visual impairment.

Dr. Raffaella Cascella
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. Biomedicines 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

  • ophthalmic genetics
  • inherited retinal disease
  • genomics
  • molecular biology
  • gene therapy
  • artificial intelligence
  • bioinformatics
  • biostatistical analysis

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Published Papers (2 papers)

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Research

16 pages, 1454 KiB  
Article
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants
by Raffaella Cascella, Jacopo Sebastiani, Claudia Strafella, Giulia Calvino, Sarah Andreucci, Michele D’ambrosio, Stefania Zampatti, Jung Hee Levialdi Ghiron, Benedetto Falsini, Andrea Cusumano and Emiliano Giardina
Biomedicines 2025, 13(7), 1531; https://doi.org/10.3390/biomedicines13071531 - 23 Jun 2025
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Abstract
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity. This study combines genomic, clinical, and instrumental data, including BCVA, OCT, ERG, and visual field testing, using a multimodal [...] Read more.
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity. This study combines genomic, clinical, and instrumental data, including BCVA, OCT, ERG, and visual field testing, using a multimodal approach to identify known and novel PRPH2 variants, with the aim of refine genotype–phenotype correlations and improving the diagnosis of IRDs. Methods: A total of 830 Italian subjects diagnosed with IRDs by the multimodal clinical approach underwent WES on the Illumina® Next-Seq 550 system. Genetic variants were evaluated by considering type, frequency, and pathogenicity using dedicated databases and bioinformatics tools. Results: WES analysis led to the identification of three novel PRPH2 variants (c.653C>G, c.700T>C, c.121del) and seven previously reported variants (c.424C>T, c.458A>G, c.461_463del, c.493T>C, c.499G>A, c.612C>G, c.734dup) documented in public databases and the scientific literature. Conclusions: Our data confirm the wide spectrum of IRDs associated with PRPH2 genetic variants and highlight the importance of integrating genetic, clinical, and instrumental data. This strategy enhances diagnostic accuracy and strengthens genotype–phenotype correlations, ultimately improving clinical decision-making and personalized patient management. Full article
(This article belongs to the Special Issue Ophthalmic Genetics: Unraveling the Genomics of Eye Disorders)
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14 pages, 298 KiB  
Article
Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma
by Eva Elksne, Baiba Lace, Janis Stavusis, Anastasija Tvoronovica, Pawel Zayakin, Eriks Elksnis, Arturs Ozolins, Ieva Micule, Sandra Valeina and Inna Inashkina
Biomedicines 2025, 13(5), 1222; https://doi.org/10.3390/biomedicines13051222 - 18 May 2025
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Abstract
Background: Primary congenital glaucoma (PCG) is a rare disease with an incidence of 1 in 12,000 to 18,000 in Europeans. The scarcity of the disease and limited access to genetic testing have hindered research, particularly within the Latvian population. Objectives: This [...] Read more.
Background: Primary congenital glaucoma (PCG) is a rare disease with an incidence of 1 in 12,000 to 18,000 in Europeans. The scarcity of the disease and limited access to genetic testing have hindered research, particularly within the Latvian population. Objectives: This study aims to present the preliminary results of a molecular genetic investigation into PCG in a Latvian cohort and to compare the prevalence of gene CYP1B1 variants with other European studies as well as to the general population in Latvia. Methods: Twenty probands with clinically diagnosed PCG and 36 family members enrolled in the study. Genetic testing was conducted using genomic DNA from peripheral blood using next generation sequencing (NGS) of seven selected genes: CYP1B1, FOXC1, FOXE3, PXDN, PITX2, PITX3, PAX6, and CPAMD8. Four probands had whole-genome sequencing (WGS). Results: All participants were of European ancestry, with no family history of PCG. Most probands were diagnosed in their first year of life, with a female to male ratio of 1:1.2 and with 80.0% of cases being unilateral. No CYP1B1 pathogenic variants were identified in the screened subjects. However, a heterozygous missense variant c.4357C>A (p.Pro4357Thr) in the PXDN gene was found in one proband and one of her parents that was classified as a variant of uncertain significance. Conclusions: This study represents the first genetic characterization of PCG in the Latvian population. Using NGS, we identified no pathogenic variants in the CYP1B1 gene among affected individuals. Preliminary evidence from this cohort does not support CYP1B1 variants as a predominant cause of PCG, though larger studies are needed to confirm this observation. Comprehensive genetic screening using whole-exome or whole-genome sequencing will be essential to identify the underlying genetic etiology of PCG in Latvia. Full article
(This article belongs to the Special Issue Ophthalmic Genetics: Unraveling the Genomics of Eye Disorders)
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