International Journal of Molecular Sciences · 1 author, 1 centre
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This editorial introduces a Special Issue of the International Journal of Molecular Sciences comprising eight papers on ocular disease mechanisms and therapies. It highlights key findings on diabetic retinopathy, dry eye disease, uveal melanoma, and tear biomarkers for Alzheimer's disease. The collection underscores the importance of molecular and cellular research for advancing prevention, diagnosis, and treatment of eye diseases.
**Background:** Visual impairment and ophthalmic diseases are significant global public health concerns with rising prevalence. Understanding risk factors, biomarkers, and cellular/molecular mechanisms underlying eye diseases is crucial for prevention, early diagnosis, and novel therapies. This Special Issue of the International Journal of Molecular Sciences aims to broaden knowledge of biomarkers and biological pathways in eye disease development and identify potential treatment targets. It includes eight papers: two original research articles, five reviews, and one case report.
**Methods:** The editorial summarizes the content of each paper in the Special Issue. Topics covered include diabetic retinopathy (DR) pathogenesis in relation to vitamin D and the Mediterranean diet, retinal diseases from C2orf71/PCARE mutations, systemic lupus erythematosus with macrophage activation syndrome and retinal vasculitis, sexual dimorphism of the human lacrimal gland, dry eye disease (DED) and the ocular surface microbiome, tear biomarkers for Alzheimer's disease (AD), and genetic/epigenetic characteristics of uveal melanoma (UM).
**Key Results:** - Gverović Antunica et al. reviewed vitamin D's role in DR, noting a correlation between deficiency and increased DR risk, but precise mechanisms remain unclear. - Bryl et al. summarized the Mediterranean diet's protective effects on type 2 diabetes and DR, including antioxidant and anti-inflammatory properties, though research is limited. - Zufiaurre-Seijo et al. reviewed retinal diseases from C2orf71/PCARE mutations, covering clinical symptoms, mutational landscape, and therapeutic options. - Ikić Matijašević et al. reported a case of SLE with both MAS and RV, successfully treated with immunosuppressants, glucocorticoids, rituximab, intravitreal bevacizumab, and laser photocoagulation. - Hat et al. quantitatively assessed sex steroid hormone receptor mRNA in human lacrimal gland tissue, finding ERα mRNA significantly higher than AR and ERβ, suggesting ERα as a target for DED therapy. - Schlegel et al. showed DED patients have distinct ocular surface microbiome features and tear proteome profiles, opening doors for microbiome-targeted interventions. - Kaštelan et al. reviewed tear biomarkers for AD, including lipocalin-1, lysozyme-C, lacritin, eIF4E, Aβ38, Aβ40, Aβ42, Aβ1-42, T-tau, P-tau, miRNAs, and lactoferrin, as potential non-invasive diagnostic tools. - Pašalić et al. summarized genetic and epigenetic characteristics of UM, emphasizing miRNA expression alterations for diagnosis and prognosis, and targeted therapies based on signaling pathways.
**Clinical Implications:** The findings enhance understanding of ocular disease mechanisms and highlight potential preventive and therapeutic strategies. Vitamin D supplementation and Mediterranean diet may benefit DR patients. ERα targeting could lead to selective hormonal therapy for DED. Tear biomarkers offer non-invasive AD screening. Genetic analysis in UM can identify high-risk patients for metastasis. The case report provides diagnostic guidelines for MAS in SLE. Overall, the Special Issue advances knowledge toward improved prevention, diagnosis, and personalized treatment of eye diseases.