Open AccessOptical coherence tomography features in a case of Type I sialidosis
Author(s) -
I-Hua Wang,
TingYu Lin,
Shu-Ting Kao
Publication year - 2017
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.4103/tjo.tjo_53_17
Subject(s) - medicine , optical coherence tomography , ophthalmology , ganglion , retina , retinal , pathology , neuroscience , anatomy , biology
A 15-year-old boy presented with progressive myoclonic epilepsy and unbalance gaits for 4 years. Slit lamp examination showed a punctate cataract and funduscopic examination revealed bilateral macular cherry-red spots. Macular scan of spectral domain optical coherence tomography (SD-OCT) showed hyperreflectivity of the inner retinal layer and apparent hyperreflectivity of the photoreceptor layers in the foveal region. The clinical presentations were consistent with a Type I sialidosis which led to genetic analysis and revealed NEU1 mutation in this patient. He was under regular follow-up by ophthalmologist and neurologist. Sialidosis is a rare lysosomal storage disease resulting from a deficiency of alpha-N-acetyl neuraminidase caused by a mutation in the NEU1 gene. This results in abnormal intracellular accumulation of sialyloligosaccharides in brain neurons and ganglion cells of the retina. SD-OCT is a useful tool in detecting macular cherry-red spot and has a role in evaluating the extent of ganglion cell damage. It can aid in the differential diagnosis and long-term follow-up of the neurological metabolic disorders.