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Life
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Pediatric Ophthalmic Pathology—Integrating Clinical and Basic Research
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Pediatric Ophthalmic Pathology—Integrating Clinical and Basic Research

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: 31 May 2025 | Viewed by 1273

Special Issue Editors

Dr. Antionette L. Williams

E-Mail Website
Guest Editor
1. Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA
2. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave., Chicago, IL 60611, USA
Interests: craniofacial and ophthalmic development; anterior segment dysgenesis; ocular neural crest development; corneal development and regeneration; developmental and molecular biology
Dr. Brenda L. Bohnsack

E-Mail Website
Guest Editor
1. Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA
2. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave., Chicago, IL 60611, USA
Interests: congenital craniofacial and ocular diseases; anterior segment complications; developmental genetics; pediatric ophthalmology; pediatric intraocular diseases

Special Issue Information

Dear Colleagues,

The leading causes of blindness and low vision in the United States are primarily considered to be age-related eye diseases, such as macular degeneration, cataract, diabetic retinopathy, glaucoma, amblyopia, and strabismus. However, it is a well-known fact that children can similarly present with blinding ocular diseases and low-vision pathologies, including Peters anomaly, Axenfeld–Reiger syndrome, glaucoma, cataract, refractive errors, strabismus, and amblyopia, which negatively impact their growth and development, with lifelong consequences. Therefore, any visual impairment must be detected as soon as possible, and research is needed to address a lack of mechanistic and biological understanding of eye development and the pathophysiology of blinding diseases, as well as a lack of clinically relevant endpoints and molecularly targeted treatments to prevent blindness and restore vision in affected individuals. Thus, effective collaboration between researchers and clinicians is crucial to rapidly translate basic research discoveries into much-needed clinical applications. To this end, we are launching this Special Issue to highlight recent advancements in pediatric ophthalmic research to help bridge the gap between basic science and clinical practice.

This Special Issue is now open for submissions. Prospective authors in various fields, including molecular, cell, and developmental biology, genetics, immunology, and clinical and ocular biology, using multiple-model systems, such as zebrafish, frogs, birds, rabbits, and mice, as well as human subjects, are encouraged to send a short abstract or tentative title to the Editorial Office. If the topic is deemed appropriate for inclusion, then the author will be encouraged to submit a full manuscript to this Special Issue.

Dr. Antionette L. Williams
Dr. Brenda L. Bohnsack
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. Life 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

  • congenital eye anomalies
  • anterior segment disorders
  • genetic eye disorders
  • pediatric eye conditions
  • pediatric ophthalmology

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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11 pages, 676 KiB  
Article
The Benefits of Badminton in the Inhibition of Myopia Progression
by Joanna Zawistowska, Wojciech Pawłowski, Dominik Maślach, Michalina Krzyżak, Katarzyna Rogulska, Julia Zawistowska, Aneta Narel and Alina Bakunowicz-Łazarczyk
Life 2025, 15(5), 734; https://doi.org/10.3390/life15050734 - 1 May 2025
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Abstract
Background: Myopia progression in children is a growing public health concern, with increasing evidence suggesting that lifestyle factors may influence its development. This study aimed to evaluate the potential benefits of regular badminton activity in slowing myopia progression in children. Methods: We analyzed [...] Read more.
Background: Myopia progression in children is a growing public health concern, with increasing evidence suggesting that lifestyle factors may influence its development. This study aimed to evaluate the potential benefits of regular badminton activity in slowing myopia progression in children. Methods: We analyzed data from 40 children aged 7–14 years with myopia ranging from −1.50 D to −6.25 D who participated in supervised badminton training (three 45 min sessions per week) for 10 months. A control group of 62 myopic children who did not engage in regular physical activity was included. Ophthalmological assessments were performed at baseline and after 10 months. Results: The axial length increased by 0.37 mm in the badminton group compared to 0.56 mm in the control group. The mean change in the spherical equivalent was −0.52 D in the badminton group and −0.84 D in controls. Myopia progression was slower in the group participating in regular physical activity. Conclusions: Regular badminton activity may help reduce the rate of axial elongation and myopia progression in children. These findings support the inclusion of physical activity as a complementary strategy in managing pediatric myopia. However, further research is needed to determine whether this effect is specific to badminton or reflects the general benefit of physical activity. Full article
(This article belongs to the Special Issue Pediatric Ophthalmic Pathology—Integrating Clinical and Basic Research)
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Review

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15 pages, 2042 KiB  
Review
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies
by Elizabeth M. Bolton, Andy Drackley, Antionette L. Williams and Brenda L. Bohnsack
Life 2025, 15(3), 395; https://doi.org/10.3390/life15030395 - 3 Mar 2025
Viewed by 811
Abstract
The CYP1B1 gene encodes a cytochrome p450 monooxygenase enzyme, and over 150 variants have been associated with a spectrum of eye diseases, including primary congenital glaucoma, anterior segment dysgenesis, juvenile open-angle glaucoma, and primary open-angle glaucoma. Clinical genetics has yielded insights into the [...] Read more.
The CYP1B1 gene encodes a cytochrome p450 monooxygenase enzyme, and over 150 variants have been associated with a spectrum of eye diseases, including primary congenital glaucoma, anterior segment dysgenesis, juvenile open-angle glaucoma, and primary open-angle glaucoma. Clinical genetics has yielded insights into the functions of the various CYP1B1 gene domains; however, animal studies are required to investigate the molecular role of CYP1B1 in the eye. While both zebrafish and mice express CYP1B1 in the developing eye, embryonic studies have shown disparate species-specific functions. In zebrafish, CYP1B1 regulates ocular fissure closure such that overexpression causes a remarkable phenotype consisting of the absence of the posterior eye wall. Adult CYP1B1 null zebrafish lack an ocular phenotype but show mild craniofacial abnormalities. In contrast, CYP1B1−/− mice display post-natal mild to severe trabecular meshwork degeneration due to increased oxidative stress damage. Interestingly, the retinal ganglion cells in CYP1B1 null mice may be more susceptible to damage secondary to increased intraocular pressure. Future studies, including detailed genotype–phenotype information and animal work elucidating the regulation, substrates, and downstream effects of CYP1B1, will yield important insights for developing molecularly targeted therapies that will aim to prevent vision loss in CYP1B1-related eye diseases. Full article
(This article belongs to the Special Issue Pediatric Ophthalmic Pathology—Integrating Clinical and Basic Research)
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