Age at visit: 12 years | OD | OS |
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This 12 year old male failed his newborn hearing test and began wearing hearing aids shortly thereafter. At age 6, when he began to lose his primary teeth, he was found to have amelogenesis imperfecta of his permanent teeth. At age 12, subtle fundus changes were noted on routine eye examination.
Refraction OD:     | -0.25 +0.50 x 10 |
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Refraction OS:     | -1.00 +0.50 x 10 |
The clinical features supporting the diagnosis of Heimler syndrome in this patient include: childhood onset hearing loss correctable with hearing aids; amelogenesis imperfecta; thinning of the outer nuclear layer on OCT with a corresponding visual field defect; a similarly affected sister; and, normally sighted parents.
Age at visit: 12 years |
OD | OS | ||
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OD | OS | ||
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OD | OS | ||
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OD | OS | ||
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Age at visit: 13 years |
Age at visit: 15 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Heimler Syndrome | PEX6 | Trp249Arg TGG>AGG | Arg601Trp CGG>TGG | AR |