Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration

Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder characterized by neurodegeneration with brain iron accumulation (NBIA). We report an infant diagnosed with BPAN who was found to have high myopia and astigmatism, strabismus, and bilateral retinal pigmentary change...

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Veröffentlicht in:Journal of AAPOS 2018-10, Vol.22 (5), p.403-405
Hauptverfasser: Tiedemann, Laura M., Reed, Dallas, Joseph, Anthony, Yoo, Sylvia H.
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creator Tiedemann, Laura M.
Reed, Dallas
Joseph, Anthony
Yoo, Sylvia H.
description Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder characterized by neurodegeneration with brain iron accumulation (NBIA). We report an infant diagnosed with BPAN who was found to have high myopia and astigmatism, strabismus, and bilateral retinal pigmentary changes. While retinal pigmentary changes have been described in other disorders of NBIA, it has been only rarely reported in BPAN.
doi_str_mv 10.1016/j.jaapos.2018.03.013
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title Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration
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