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

Laura M Tiedemann; Dallas Reed; Anthony Joseph; Sylvia H Yoo

doi:10.1016/j.jaapos.2018.03.013

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

J AAPOS. 2018 Oct;22(5):403-405. doi: 10.1016/j.jaapos.2018.03.013. Epub 2018 Aug 6.

Authors

Laura M Tiedemann¹, Dallas Reed², Anthony Joseph³, Sylvia H Yoo⁴

Affiliations

¹ George Washington University School of Medicine and Health Sciences, Washington, DC.
² Department of Obstetrics and Gynecology, Tufts Medical Center, Boston, Massachusetts; Department of Pediatrics, Division of Medical Genetics, Tufts Medical Center, Boston, Massachusetts.
³ Vitreoretinal Surgery and Disease, Ophthalmic Consultants of Boston, Boston, Massachusetts.
⁴ Department of Ophthalmology, New England Eye Center, Tufts Medical Center, Boston, Massachusetts. Electronic address: [email protected].

PMID: 30092264
DOI: 10.1016/j.jaapos.2018.03.013

Abstract

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.

Publication types

Case Reports

MeSH terms

Astigmatism / etiology
Carrier Proteins / metabolism*
Child
Female
Humans
Iron Metabolism Disorders / complications*
Myopia, Degenerative / etiology
Neuroaxonal Dystrophies / complications*
Neurodegenerative Diseases / complications*
Retinal Pigment Epithelium / pathology*
Strabismus / etiology
Vision Disorders / etiology*

Substances

Carrier Proteins

Supplementary concepts

Neurodegeneration with brain iron accumulation (NBIA)