ArticleAmerican journal of medical genetics. Part A2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- Ophthalmologic Findings in an Induced Model of Holoprosencephaly in Zebrafish.The Journal of comparative neurology · 2025Article
- Holoprosencephaly and cyclopia inAnimal cells and systems · 2025Article
- Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction ofInternational journal of molecular sciences · 2023Article
- Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.Investigative ophthalmology & visual science · 2022Article
- A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.Ophthalmic epidemiology · 2021Article
- Examining the developmental toxicity of piperonyl butoxide as a Sonic hedgehog pathway inhibitor.Chemosphere · 2021Review
- Compound heterozygous splicing CDON variants result in isolated ocular coloboma.Clinical genetics · 2020Article
- Article
- The hedgehog pathway and ocular developmental anomalies.Human genetics · 2019Review
- In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.American journal of medical genetics. Part A · 2017Article
- Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Disease models & mechanisms · 2016Article
- Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.Genome research · 2016Article
- Six3 regulates optic nerve development via multiple mechanisms.Scientific reports · 2016Article
- Holoprosencephaly: report of four cases and genotype-phenotype correlations.Journal of genetics · 2013Article
- Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.American journal of medical genetics. Part A · 2012Article
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9 authors at 2 institutions in 1 country.
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Abstract
Holoprosencephaly (HPE) is the most common disorder of the developing forebrain in humans, and is characterized by failed or incomplete cleavage of the cerebral hemispheres and deep brain structures. HPE includes wide phenotypic variability, with a continuum of both brain and craniofacial anomalies. While "classic" eye findings, including the spectrum of midline anomalies ranging from cyclopia to hypotelorism, as well as chorioretinal coloboma and microphthalmia, have been frequently described in patients with HPE, other subtle eye anomalies may also occur. In our study we prospectively analyzed a small cohort of 10 patients in whom we identified mutations in SHH, SIX3, ZIC2, or FGF8, the latter of which is a very recently described HPE-associated gene. We found that 9 of 10 patients had at least two ophthalmologic anomalies, including refractive errors, microcornea, microphthalmia, blepharoptosis, exotropia, and uveal coloboma. These findings contribute to the understanding of the phenotypic variability of the HPE spectrum, and highlight findings in one medically important but often incompletely investigated system.
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