BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
3/18/2025 7:12:48 AM | Browse: 40 | Download: 40
Publication Name World Journal of Clinical Pediatrics
Manuscript ID 101982
Country India
Received
2024-10-03 15:15
Peer-Review Started
2024-10-03 15:15
To Make the First Decision
Return for Revision
2025-02-07 09:24
Revised
2025-02-19 04:32
Second Decision
2025-02-25 02:50
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-02-25 09:22
Articles in Press
2025-02-25 09:22
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2025-03-04 08:51
Publish the Manuscript Online
2025-03-18 07:12
ISSN 2219-2808 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics & Heredity
Manuscript Type Review
Article Title Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions
Manuscript Source Invited Manuscript
All Author List Shiwali Goyal, Shailja Tibrewal, Ria Ratna and Vanita Vanita
ORCID
Author(s) ORCID Number
Shiwali Goyal http://orcid.org/0000-0002-3126-774X
Shailja Tibrewal http://orcid.org/0000-0002-4497-9818
Ria Ratna http://orcid.org/0009-0009-0675-0658
Vanita Vanita http://orcid.org/0000-0003-2251-6641
Funding Agency and Grant Number
Corresponding Author Vanita Vanita, PhD, Professor, Department of Human Genetics, Guru Nanak Dev University, Grand Trunk Road, Off NH 1, Amritsar 143005, Punjab, India. vanita_kumar@yahoo.com
Key Words Anophthalmia; Microphthalmia; Eye development; SRY-Box 2; Orthodenticle homeobox 2
Core Tip Anophthalmia (absence of one or both eyes) and microphthalmia (small eye within the orbit) are rare congenital conditions, affecting up to 30 per 100000 individuals. These malformations can occur independently or as a part of a syndrome, with complex genetic basis involving over 90 genes. Environmental factors like maternal infections, VAD, and toxin exposure also contribute to their development. Both conditions exhibit significant variability, making diagnosis and management challenging. This review discusses genetic and environmental influences on anophthalmia and microphthalmia, highlighting promising research areas such as multiomic approaches and stem-cell based models for potential therapeutic advancements.
Publish Date 2025-03-18 07:12
Citation <p>Goyal S, Tibrewal S, Ratna R, Vanita V. Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. <i>World J Clin Pediatr</i> 2025; 14(2): 101982</p>
URL https://www.wjgnet.com/2219-2808/full/v14/i2/101982.htm
DOI https://dx.doi.org/10.5409/wjcp.v14.i2.101982
Full Article (PDF) WJCP-14-101982-with-cover.pdf
Manuscript File 101982_Auto_Edited_094112.docx
Answering Reviewers 101982-answering-reviewers.pdf
Audio Core Tip 101982-audio.mp4
Conflict-of-Interest Disclosure Form 101982-conflict-of-interest-statement.pdf
Copyright License Agreement 101982-copyright-assignment.pdf
Non-Native Speakers of English Editing Certificate 101982-non-native-speakers.pdf
Peer-review Report 101982-peer-reviews.pdf
Scientific Misconduct Check 101982-scientific-misconduct-check.png
Scientific Editor Work List 101982-scientific-editor-work-list.pdf
CrossCheck Report 101982-crosscheck-report.pdf