title: Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.
abstract: BACKGROUND
  Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and was later confirmed with genetic sialidosis.
  
  
  METHODS
  A 13-year-old Chinese male presented with bilateral decreased vision over the past 2 years before his initial visit. Funduscopic examination revealed a macular cherry-red bilateral spot. FAF showed hyperreflective areas surrounding a central hyporeflective fovea in both eyes. OCT revealed increased reflectivity in the ganglion cell layer in both maculae without a definite boundary between the hyperreflective and normal areas. These findings suggested that lipofuscin had accumulated in the retinal ganglion cells, which is a distinctive ocular feature in metabolic central nervous system (CNS) disorders. He was later confirmed with genetic sialidosis.
  
  
  CONCLUSIONS
  FAF and OCT images are very sensitive and useful techniques for diagnosing lysosomal storage disease of the CNS, and are helpful in evaluating the extent of damage in retinal ganglion cells.
authors.affiliation: Department of Ophthalmology, Nanjing Medical University Affiliated Wuxi Second Hospital, Wuxi, 214002, China.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Zou
authors.affiliation: Department of Ophthalmology, Eye Ear Nose and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, Eye Ear Nose and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China. valentian99@hotmail.com.
authors.forename: Guohong
authors.initials: G
authors.lastname: Tian
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009439:Neuraminidase / Q000235:genetics; D061848:Optical Imaging; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D012165:Retinal Ganglion Cells / Q000473:pathology; D041623:Tomography, Optical Coherence
chemical_list: C486385:NEU1 protein, human; D009439:Neuraminidase
keywords: Cherry-red spot; Fundus autofluorescence; Optical coherence tomography; Sialidosis