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Ocular Disorders: From Age-Related to Genetically Determined Conditions
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Ocular Disorders: From Age-Related to Genetically Determined Conditions

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: closed (15 May 2022) | Viewed by 8112

Special Issue Editors

Dr. Raffaella Cascella

E-Mail Website
Guest Editor
1. Department of Biomedicine and Prevention, School of Medicine, University of Rome “Tor Vergata”, Rome, Italy
2. Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, 1000 Tirana, Albania
Interests: precision medicine; genomics; epigenomics; biomarkers investigations; genetics in retinal diseases
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Bent Honoré

E-Mail Website
Guest Editor
1. Department of Biomedicine, Aarhus University, Aarhus, Denmark
2. Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Interests: discovery based and targeted proteomics; tandem mass spectrometry; protein biomarkers; lymphoma; eye diseases; cardiovascular diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Retinal and corneal dystrophies can occur due to genetic and non-genetic factors (lifestyle, age, etc), which can sometimes cooperate in the onset and/or progression of a disease. In this regard, the research of biomarkers and the identification of specific molecular pathways are fundamental to better understand the different ocular pathologies and in some cases also provide tools for a differential molecular diagnosis.

In this special issue, we are looking for research results including new findings in the fields of retinal and corneal pathology from different perspectives, in particular, genetic mechanisms and treatment strategies. The aim is to broaden the direction and possibilities of ocular disorders research. We are looking forward to and will be welcoming your invaluable work in this issue.

Dr. Raffaella Cascella
Prof. Dr. Bent Honoré
Guest Editors

Manuscript Submission Information

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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.

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Keywords

  • gene

  • macular degeneration
  • glaucoma
  • biomarkers
  • pathogenesis
  • chemical signaling
  • retina
  • cornea
  • molecular and cellular mechanisms
  • treatment options

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Published Papers (3 papers)

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Research

16 pages, 3738 KiB  
Article
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
by Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi and Giacomo Maria Bacci
Int. J. Mol. Sci. 2022, 23(14), 7825; https://doi.org/10.3390/ijms23147825 - 15 Jul 2022
Cited by 6 | Viewed by 2330
Abstract
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with [...] Read more.
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common TYR polymorphisms p.(Arg402Gln) and p.(Ser192Tyr) when both are located in trans with a pathogenic TYR variant and aims to expand the phenotypic spectrum of albinism in order to increase the detection rate of the albino phenotype. Our data also suggest that isolated foveal hypoplasia should be considered a clinical sign instead of a definitive diagnosis of an isolated clinical entity, and we recommend deep phenotypic and molecular characterization in such patients to achieve a proper diagnosis. Full article
(This article belongs to the Special Issue Ocular Disorders: From Age-Related to Genetically Determined Conditions)
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13 pages, 3225 KiB  
Article
Detection of Human Papillomavirus in Squamous Lesions of the Conjunctiva Using RNA and DNA In-Situ Hybridization
by Cornelia Peterson, Rupin N. Parikh, Meleha T. Ahmad, Ashley A. Campbell, Yassine Daoud, Nicholas Mahoney, Sepideh Siadati and Charles G. Eberhart
Int. J. Mol. Sci. 2022, 23(13), 7249; https://doi.org/10.3390/ijms23137249 - 29 Jun 2022
Cited by 2 | Viewed by 2453
Abstract
In-situ hybridization provides a convenient and reliable method to detect human papillomavirus (HPV) infection in formalin-fixed paraffin-embedded tissue. Cases of conjunctival papillomas, conjunctival intraepithelial neoplasia (CIN), conjunctival carcinoma in situ (cCIS), and invasive squamous cell carcinoma (SCC), in which low-risk (LR) and/or high-risk [...] Read more.
In-situ hybridization provides a convenient and reliable method to detect human papillomavirus (HPV) infection in formalin-fixed paraffin-embedded tissue. Cases of conjunctival papillomas, conjunctival intraepithelial neoplasia (CIN), conjunctival carcinoma in situ (cCIS), and invasive squamous cell carcinoma (SCC), in which low-risk (LR) and/or high-risk (HR) HPV types were evaluated by RNA or DNA in-situ hybridization, were retrospectively identified. LR HPV types were frequently detected in conjunctival papillomas (25/30, 83%), including 17/18 (94%) with RNA probes, compared to 8/12 (75%) with DNA probes. None of the CIN/cCIS or SCC cases were positive for LR HPV by either method. HR HPV was detected by RNA in-situ hybridization in 1/16 (6%) of CIN/cCIS cases and 2/4 (50%) of SCC cases, while DNA in-situ hybridization failed to detect HPV infection in any of the CIN/cCIS lesions. Reactive atypia and dysplasia observed in papillomas was generally associated with the detection of LR HPV types. Collectively, our findings indicate RNA in-situ hybridization may provide a high-sensitivity approach for identifying HPV infection in squamous lesions of the conjunctiva and facilitate the distinction between reactive atypia and true dysplasia. There was no clear association between HPV infection and atopy in papillomas or dysplastic lesions. Full article
(This article belongs to the Special Issue Ocular Disorders: From Age-Related to Genetically Determined Conditions)
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20 pages, 4432 KiB  
Article
Signaling Pathways Impact on Induction of Corneal Epithelial-like Cells Derived from Human Wharton’s Jelly Mesenchymal Stem Cells
by Hong Thi Nguyen, Kasem Theerakittayakorn, Sirilak Somredngan, Apichart Ngernsoungnern, Piyada Ngernsoungnern, Pishyaporn Sritangos, Mariena Ketudat-Cairns, Sumeth Imsoonthornruksa, Juthaporn Assawachananont, Nattawut Keeratibharat, Rangsirat Wongsan, Ruttachuk Rungsiwiwut, Chuti Laowtammathron, Nguyen Xuan Bui and Rangsun Parnpai
Int. J. Mol. Sci. 2022, 23(6), 3078; https://doi.org/10.3390/ijms23063078 - 12 Mar 2022
Cited by 4 | Viewed by 2673
Abstract
Corneal epithelium, the outmost layer of the cornea, comprises corneal epithelial cells (CECs) that are continuously renewed by limbal epithelial stem cells (LESCs). Loss or dysfunction of LESCs causes limbal stem cell deficiency (LSCD) which results in corneal epithelial integrity loss and visual [...] Read more.
Corneal epithelium, the outmost layer of the cornea, comprises corneal epithelial cells (CECs) that are continuously renewed by limbal epithelial stem cells (LESCs). Loss or dysfunction of LESCs causes limbal stem cell deficiency (LSCD) which results in corneal epithelial integrity loss and visual impairment. To regenerate the ocular surface, transplantation of stem cell-derived CECs is necessary. Human Wharton’s jelly derived mesenchymal stem cells (WJ-MSCs) are a good candidate for cellular therapies in allogeneic transplantation. This study aimed to test the effects of treatments on three signaling pathways involved in CEC differentiation as well as examine the optimal protocol for inducing corneal epithelial differentiation of human WJ-MSCs. All-trans retinoic acid (RA, 5 or 10 µM) inhibited the Wnt signaling pathway via suppressing the translocation of β-catenin from the cytoplasm into the nucleus. SB505124 downregulated the TGF-β signaling pathway via reducing phosphorylation of Smad2. BMP4 did not increase phosphorylation of Smad1/5/8 that is involved in BMP signaling. The combination of RA, SB505124, BMP4, and EGF for the first 3 days of differentiation followed by supplementing hormonal epidermal medium for an additional 6 days could generate corneal epithelial-like cells that expressed a CEC specific marker CK12. This study reveals that WJ-MSCs have the potential to transdifferentiate into CECs which would be beneficial for further applications in LSCD treatment therapy. Full article
(This article belongs to the Special Issue Ocular Disorders: From Age-Related to Genetically Determined Conditions)
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