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Genes
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The Genetic Lens: A New Era in Ophthalmology
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The Genetic Lens: A New Era in Ophthalmology

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".

Deadline for manuscript submissions: 25 September 2026 | Viewed by 1161

Special Issue Editors

Dr. Stefania Zampatti

E-Mail Website
Guest Editor
Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, 00142 Rome, Italy
Interests: genetic counseling; neurogenetics; pharmacogenetics; rare disorders; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals
Dr. Emiliano Giardina

E-Mail Website
Guest Editor
1. Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy
2. Forensic Genetics Laboratoty, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The advent of genomic medicine has fundamentally reshaped the landscape of ophthalmology, allowing for the development of innovative protocols for patient evaluation, diagnosis, and management. In the field of retinal genomics, the integration of these new technologies lays the groundwork for the automated analysis of vast genetic datasets. In fact, cutting-edge machine learning algorithms are now essential for decoding the myriad genomic variants associated with inherited retinal diseases (IRDs). Retinal genomics has definitively shown that a comprehensive genetic assessment is crucial in order to apply precision medicine to patients with both common and rare retinal disorders, such as retinitis pigmentosa, Leber congenital amaurosis, and macular dystrophies. By integrating multi-omics data—including genomics, transcriptomics, and epigenomics—AI models have demonstrated unparalleled abilities. The strategic use of these models, under strict human oversight, can help to identify key disease-related biomarkers, support the prediction of patient-specific treatment responses, and speed up the drug discovery process.

This Special Issue welcomes reviews and original articles that cover many aspects of genetics and its applications in retinal disease. These contributions may include, but are not limited to, new diagnostic, therapeutic, and imaging protocols; functional and molecular evaluations of ophthalmological disorders; the translation of research findings into clinical protocols; new management perspectives; and multi-omics analyses of disease trajectories. This Special Issue of Genes will highlight the undeniable potential of genetics to bridge the gap between groundbreaking research and clinical practice, offering a clear roadmap for future innovations in vision health. By leveraging the computational power of modern genomics, precision medicine can move closer to providing individualized, data-driven solutions for treating retinal disorders, thereby improving patient outcomes and reshaping the future of ophthalmology and healthcare.

Dr. Stefania Zampatti
Dr. Emiliano Giardina
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 250 words) can be sent to the Editorial Office for assessment.

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

  • ophthalmology
  • genomics
  • artificial intelligence
  • inherited retinal disease
  • blindness

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Published Papers (2 papers)

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11 pages, 2071 KB  
Article
Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort
by Basamat AlMoallem
Genes 2026, 17(4), 360; https://doi.org/10.3390/genes17040360 - 24 Mar 2026
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Abstract
Background: Heimler syndrome (HS) is a rare autosomal recessive disorder representing the mildest end of the peroxisome biogenesis disorder spectrum. It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, [...] Read more.
Background: Heimler syndrome (HS) is a rare autosomal recessive disorder representing the mildest end of the peroxisome biogenesis disorder spectrum. It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Due to phenotypic overlap with other inherited sensory disorders, particularly Usher syndrome, diagnosis of this condition is frequently delayed. Methods: We investigated two unrelated Saudi families presenting with congenital hearing loss and retinal dystrophy who were initially diagnosed with Usher syndrome. Detailed clinical evaluation, including comprehensive ophthalmologic and audiologic assessments, was performed. Whole-exome sequencing (WES) was conducted to identify the underlying genetic cause, followed by variant filtering and in silico pathogenicity prediction. Results: We identified a novel homozygous missense variant, p.Val97Gly (V97G), in the PEX6 gene that co-segregated with the disease phenotype in both families. This variant was absent from major population databases, including dbSNP, the 1000 Genomes Project, ExAC, and gnomAD, and was predicted to be deleterious by multiple in silico prediction tools. Clinically, affected individuals presented with congenital sensorineural hearing loss, pigmentary retinal dystrophy with electrophysiological evidence of cone–rod dysfunction, enamel abnormalities consistent with amelogenesis imperfecta, and mild dysmorphic facial features, supporting a diagnosis within the Heimler syndrome spectrum. Conclusions: Our findings expand the mutational spectrum of PEX6 and highlight Heimler syndrome as an important differential diagnosis in patients presenting with Usher-like phenotypes. To the best of our knowledge, this study represents the first report of the PEX6 p.Val97Gly variant associated with Heimler syndrome in a Saudi population, underscoring the value of whole-exome sequencing for accurate diagnosis and genetic counseling in individuals with inherited sensory disorders. Full article
(This article belongs to the Special Issue The Genetic Lens: A New Era in Ophthalmology)
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Review

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24 pages, 1518 KB  
Review
Precision Is Not Enough: When Tools Outpace Translation in Ocular Gene Therapy
by Maram E. A. Abdalla Elsayed and Robert E. MacLaren
Genes 2026, 17(3), 283; https://doi.org/10.3390/genes17030283 - 27 Feb 2026
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Abstract
Advances in molecular biology have positioned the eye as a leading platform for gene therapy, owing to its surgical accessibility, relative immune privilege, and the ability of the contralateral eye to serve as an anatomical control. We trace the historical evolution of gene [...] Read more.
Advances in molecular biology have positioned the eye as a leading platform for gene therapy, owing to its surgical accessibility, relative immune privilege, and the ability of the contralateral eye to serve as an anatomical control. We trace the historical evolution of gene discovery, synthesize current gene therapy strategies for inherited and acquired ocular disorders, critically evaluating the limitations of CRISPR and related genome-editing technologies, and examine the key scientific and translational challenges that must be addressed for genetic therapies to be integrated into routine ophthalmic practice. Full article
(This article belongs to the Special Issue The Genetic Lens: A New Era in Ophthalmology)
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