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.
Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Adaptor Proteins, Signal Transducing / genetics*
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Amblyopia / genetics
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Child, Preschool
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Choroid / abnormalities
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Coloboma / genetics
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Craniofacial Abnormalities / genetics*
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DNA Mutational Analysis
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Developmental Disabilities / genetics
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Eye Abnormalities / diagnosis
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Eye Abnormalities / genetics*
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Eye Diseases, Hereditary / genetics
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Female
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Genetic Diseases, X-Linked / genetics
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Heart Defects, Congenital / genetics*
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Humans
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Iris / abnormalities
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Male
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Mutation*
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Nerve Fibers, Myelinated / pathology
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Ocular Hypertension / genetics
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Optic Disk / pathology
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Osteochondrodysplasias / congenital*
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Osteochondrodysplasias / genetics
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Siblings
Substances
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Adaptor Proteins, Signal Transducing
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SH3PXD2B protein, human
Supplementary concepts
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Megalocornea
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Ter Haar syndrome