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

J AAPOS. 2017 Dec;21(6):514-516. Epub 2017 Oct 31

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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 amblyopiaÂ and megalocornea.

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

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