ReviewWorld journal of clinical pediatrics2025
Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions.
Review in World journal of clinical pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.Biomolecules · 2026Article
- Patient-specific finite element analysis of orbital biomechanical responses to malpositioned self-inflating hydrogel implants in congenital microphthalmia.Frontiers in medicine · 2026Article
- Histopathological evaluation of orbital and ocular lesions: A cross-sectional study.Bioinformation · 2026Article
- NOA1 deficiency observed in a subset of Montbéliarde calves with bilateral anophthalmia.Animal genetics · 2025Article
- Congenital eye malformations and their impact on the health status of the Mexican population.Frontiers in medicine · 2025Article
- Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population.Frontiers in genetics · 2025Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anophthalmia is defined as a complete absence of one eye or both the eyes, while microphthalmia represents the presence of a small eye within the orbit. The estimated birth prevalence for anophthalmia is approximately 3 per 100000 live births, and for microphthalmia, it is around 14 per 100000 live births. However, combined evidence suggests that the prevalence of these malformations could be as high as 30 per 100000 individuals. Microphthalmia is reported to occur in 3.2% to 11.2% of blind children. Anophthalmia and microphthalmia (A/M) are part of a phenotypic spectrum alongside ocular coloboma, hypothesized to share a common genetic basis. Both A/M can occur in isolation or as part of a syndrome. Their complex etiology involves chromosomal aberrations, monogenic inheritance pattern, and the contribution of environmental factors such as gestational-acquired infections, maternal vitamin A deficiency (VAD), exposure to X-rays, solvent misuse, and thalidomide exposure. A/M exhibit significant clinical and genetic heterogeneity with over 90 genes identified so far. Familial cases of A/M have a complex genetic basis, including all Mendelian modes of inheritance,
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