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Ann Clin Transl Neurol. 2018 Oct 24;5(12):1622-1626. doi: 10.1002/acn3.672. eCollection 2018 Dec.

Optical coherence tomography features in brothers with aspartylglucosaminuria.

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University of Texas Southwestern Medical Center Dallas Texas.
Children's Health Dallas Dallas Texas.
Rare Trait Hope Fund Belle Chasse Louisiana.


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.

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