Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Ta C ChangKara M Cavuoto

Abstract

Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. Both children had refractive amblyopia and megalocornea.

References

Dec 1, 1982·American Journal of Medical Genetics·B ter HaarJ de Jager
Feb 2, 2011·Investigative Ophthalmology & Visual Science·Mao MaoMichael G Anderson
Jul 26, 2012·The Journal of Biological Chemistry·Gábor BögelLászló Buday
May 28, 2013·International Ophthalmology·Zeynep AktasMurat Hasanreisoglu
Oct 10, 2013·European Journal of Human Genetics : EJHG·Gabrielle R WilsonPaul J Lockhart

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Citations

Dec 7, 2019·Journal of Glaucoma·Banushree RatukondlaManju R Pillai
Jun 21, 2019·American Journal of Medical Genetics. Part a·Ivo J H M de VosMaurice A M van Steensel
Jan 25, 2020·European Journal of Medical Genetics·Benjamin DurandSalima El Chehadeh

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