Open AccessOptical coherence tomography features in brothers with aspartylglucosaminuria
Author(s) -
Goodspeed Kimberly,
Harder Lana,
Hughes Samuel,
Conger Darrel,
Taravella Julia,
Gray Steven J,
Minassian Berge
Publication year - 2018
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.672
Subject(s) - optical coherence tomography , medicine , biomarker , neuroimaging , coherence (philosophical gambling strategy) , tomography , pathology , radiology , genetics , psychiatry , biology , physics , quantum mechanics
Aspartylglucosaminuria is a lysosomal storage disorder enriched in Finland. We report on a pair of non‐Finnish siblings with aspartylglucosaminuria with autofluorescent inclusion bodies on optical coherence tomography, a finding not previously reported in this disorder. We performed a record review, neurological and neuropsychological evaluation, brain MRI, and optical coherence tomography for each patient. They are compound heterozygous for a 34‐kb deletion and a c.365C>A novel variant of the AGA gene. Autofluorescent inclusion bodies were found on optical coherence tomography in the older, more severely affected brother. We hypothesize the finding represents a noninvasive biomarker of disease severity for aspartylglucosaminuria.