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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Jun 9, 2025; 14(2): 101982
Published online Jun 9, 2025. doi: 10.5409/wjcp.v14.i2.101982
Published online Jun 9, 2025. doi: 10.5409/wjcp.v14.i2.101982
Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions
Shiwali Goyal, Department of Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, MD 20852, United States
Shailja Tibrewal, Department of Pediatric Ophthalmology, Dr. Shroff’s Charity Eye Hospital, New Delhi 110002, Delhi, India
Shailja Tibrewal, Ria Ratna, Department of Ocular Genetics (Center for Unknown and Rare Eye Diseases), Dr. Shroff’s Charity Eye Hospital, New Delhi 110002, Delhi, India
Vanita Vanita, Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India
Author contributions: Goyal S was responsible for data collection and manuscript writing; Goyal S, Tibrewal S, and Ratna R were responsible for editing of the manuscript; Vanita V was responsible for study design; all the authors have read and approved the final version of this manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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/
Corresponding author: Vanita Vanita, PhD, Professor, Department of Human Genetics, Guru Nanak Dev University, Grand Trunk Road, Off NH 1, Amritsar 143005, Punjab, India.
Received: October 3, 2024
Revised: February 19, 2025
Accepted: February 25, 2025
Published online: June 9, 2025
Processing time: 165 Days and 16.1 Hours
Revised: February 19, 2025
Accepted: February 25, 2025
Published online: June 9, 2025
Processing time: 165 Days and 16.1 Hours
Core Tip
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, vitamin A deficiency, 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.