ReviewMolecular genetics and metabolism2011
Eye development genes and known syndromes.
Review in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction.Nature genetics · 2026Pooled it
- Identification of a candidate gene for astigmatism.Investigative ophthalmology & visual science · 2013Pooled it
- A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.PloS one · 2013Trial
- Beyond a gatekeeper: the non-classical signaling role of STRA6 in driving endothelial senescence and atherosclerosis.Frontiers in immunology · 2026Review
- Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions.World journal of clinical pediatrics · 2025Review
- SOX2-VSX2 Co-Occupancy Shapes Retinal Neurogenesis Through Dynamic Chromatin Regulation.bioRxiv : the preprint server for biology · 2025Article
- Decoding Facial Dissymmetry: A Comparative Morphological Study on Human Skulls and Facial Structures.Plastic and reconstructive surgery. Global open · 2025Article
- Corneal endothelial characteristics and biometric parameters in microcornea.International journal of ophthalmology · 2025Article
- SOX2-driven enhancer landscape defines the transcriptional architecture of retinogenesis.Development (Cambridge, England) · 2024Article
- Deciphering the dynamic single-cell transcriptional landscape in the ocular surface ectoderm differentiation system.Life medicine · 2024Article
- Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023.International journal of ophthalmology · 2024Article
- Molecular mechanisms controlling vertebrate retinal patterning, neurogenesis, and cell fate specification.Trends in genetics : TIG · 2023Review
- Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis.Development (Cambridge, England) · 2022Article
- Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.Clinical case reports · 2022Article
- Association analyses of rare variants identify two genes associated with refractive error.PloS one · 2022Article
- A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in theDiagnostics (Basel, Switzerland) · 2021Article
- Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome.Cureus · 2021Article
- Mutant Presenilin 1 Dysregulates Exosomal Proteome Cargo Produced by Human-Induced Pluripotent Stem Cell Neurons.ACS omega · 2021Article
- Skin Pigmentation Abnormalities and Their Possible Relationship with Skin Aging.International journal of molecular sciences · 2021Review
- The Integrative Analysis of Competitive Endogenous RNA Regulatory Networks in Coronary Artery Disease.Frontiers in cardiovascular medicine · 2021Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.