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Molecular Research and Advances in Ocular Disease
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Molecular Research and Advances in Ocular Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 2881

Special Issue Editor

Prof. Dr. Da-Wen Lu

E-Mail Website
Guest Editor
Department of Ophthalmology, Tri-Service General Hospital & National Defense Medical Center, Taipei 11490, Taiwan
Interests: ophthalmology; eye diseases; neuroprotection
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are delighted to present “Molecular Research and Advances in Ocular Disease”, a Special Issue showcasing state-of-the-art research on the mechanisms behind various eye diseasesand the development of novel treatment strategies associated with the recent advancements in the field.

In this Special Issue, we are seeking contributions and sharing that encompass the latest discoveries in the realms of diagnostic and therapeutic advancements for eye diseases. Our aim is to engage in discussions on a range of topics, including but not limited to, diagnostic imaging, molecular-pathology, artificial intelligence-assisted, and groundbreaking treatment modalities within the domain of ophthalmology that based on basic research and advancements in molecular levels. This could help to elucidate the molecular aspects underlying these pathological conditions.

Prof. Dr. Da-Wen Lu
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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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
  • AI
  • ocular
  • eye diseases
  • retina
  • cornea
  • glaucoma
  • neuro-ophthalmology

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Published Papers (2 papers)

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Research

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13 pages, 1555 KB  
Article
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies
by Lukas Neuhann, Andreas Laner, Elke Holinski-Feder and Teresa Neuhann
Int. J. Mol. Sci. 2025, 26(20), 9854; https://doi.org/10.3390/ijms26209854 - 10 Oct 2025
Viewed by 592
Abstract
Congenital eye malformations like microphthalmia–anophthalmia–coloboma (MAC), anterior segment dysgenesis (ASD), primary congenital glaucoma (PCG) and congenital cataracts (CC) are significant causes of childhood visual impairment. Phenotypic heterogeneity often complicates diagnosis. The goal of this study was to optimize the diagnostic strategy for next-generation [...] Read more.
Congenital eye malformations like microphthalmia–anophthalmia–coloboma (MAC), anterior segment dysgenesis (ASD), primary congenital glaucoma (PCG) and congenital cataracts (CC) are significant causes of childhood visual impairment. Phenotypic heterogeneity often complicates diagnosis. The goal of this study was to optimize the diagnostic strategy for next-generation sequencing (NGS)-based procedures, thereby aiming to identify genetic causes of congenital eye malformations. Forty patients with congenital eye malformations were included. A primary diagnostic testing (PD) of a limited number of genes was followed by multigene panel (MGP) testing, including 186 eye-related genes, and exome sequencing. Causative variants were identified in 17 patients (43%) and clinically relevant variants of uncertain significance (VUS) in 6 patients (15%). PD had a diagnostic yield (DY) of 15%, MGP of 29% and exome sequencing of 4%, leading to a cumulative DY of 43%. Diagnostic rates were highest in CC (75%), bilateral cases (46%), complex ocular phenotypes (78%), patients with extraocular manifestations (55%) and positive family history (70%). Rare and possible new genotype–phenotype correlations and candidate genes (FAT1, POGZ) could be identified. In total, eight (likely) pathogenic variants in six genes (CYP1B1, ADAMTS18, MAB21L2, NHS, MFRP, CRYBB1) were not yet reported. A stepwise genetic testing approach starting with a broad multigene panel followed by exome sequencing provides higher diagnostic yield than limited phenotype-specific testing. Comprehensive genetic diagnosis is essential for prognosis, treatment and genetic counseling, underscoring the need for routine genetic testing and interdisciplinary collaboration in managing congenital eye malformations. Full article
(This article belongs to the Special Issue Molecular Research and Advances in Ocular Disease)
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Review

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13 pages, 555 KB  
Review
Update on Nicotinamide and Its Application in the Management of Glaucoma
by Ta-Hung Chiu, Shih-Heng Hung, Chiao-Hsin Lan, Wei-Ting Yen and Da-Wen Lu
Int. J. Mol. Sci. 2025, 26(21), 10789; https://doi.org/10.3390/ijms262110789 - 6 Nov 2025
Viewed by 2132
Abstract
Glaucoma continues to be a primary contributor to permanent vision loss worldwide, frequently advancing even when intraocular pressure management is clinically adequate. Accumulating research emphasizes the metabolic susceptibility of retinal ganglion cells (RGCs), specifically concerning the progressive depletion of nicotinamide adenine dinucleotide (NAD [...] Read more.
Glaucoma continues to be a primary contributor to permanent vision loss worldwide, frequently advancing even when intraocular pressure management is clinically adequate. Accumulating research emphasizes the metabolic susceptibility of retinal ganglion cells (RGCs), specifically concerning the progressive depletion of nicotinamide adenine dinucleotide (NAD+), a pivotal coenzyme fundamental to mitochondrial energy production and cellular survival mechanisms. As a key biosynthetic precursor in NAD+ synthesis pathways, nicotinamide (NAM), a form of vitamin B3, has exhibited significant neuroprotective properties across various preclinical experimental models and preliminary clinical investigations, demonstrating enhanced preservation of RGC morphology and physiological function. This comprehensive review systematically examines the current body of evidence supporting NAM’s therapeutic utility in glaucomatous neuroprotection, focusing particularly on underlying metabolic pathways, obstacles in clinical translation, and prospective therapeutic applications. Through systematic integration of data from cellular and molecular research, animal experimental studies, and population-based epidemiological investigations, we establish a conceptual framework for repurposing NAM as an innovative complementary therapeutic strategy in comprehensive glaucoma care, addressing key considerations for future clinical development including optimal dosing strategies, delivery mechanisms, and patient selection criteria for maximizing therapeutic outcomes in this challenging neurodegenerative condition. Full article
(This article belongs to the Special Issue Molecular Research and Advances in Ocular Disease)
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