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

Ta C. Chang, Mislen Bauer, Herminia S. Puerta, Matthew B. Greenberg, Kara M. Cavuoto

Research output: Contribution to journalArticle

5 Scopus citations

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. [Figure presented]

Original languageEnglish (US)
Pages (from-to)514-516
Number of pages3
JournalJournal of AAPOS
Volume21
Issue number6
DOIs
StatePublished - Dec 1 2017

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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