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 561

Special Issue Editors


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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

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

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Keywords

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

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Published Papers (1 paper)

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Review

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 359
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
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