How to Cite this Article: Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M. 2011. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet Part A 155: 2713–2720.
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum†
Article first published online: 4 OCT 2011
Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2713–2720, November 2011
How to Cite
Pineda-Alvarez, D. E., Solomon, B. D., Roessler, E., Balog, J. Z., Hadley, D. W., Zein, W. M., Hadsall, C. K., Brooks, B. P. and Muenke, M. (2011), A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am. J. Med. Genet., 155: 2713–2720. doi: 10.1002/ajmg.a.34261
- Issue published online: 20 OCT 2011
- Article first published online: 4 OCT 2011
- Manuscript Accepted: 17 JUL 2011
- Manuscript Received: 17 MAY 2011
- Division of Intramural Research of the National Human Genome Research Institute
- National Institutes of Health
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. Published 2011. This article is a U.S. Government work and is in the public domain in the USA.