title: Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
abstract: Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegeneration. Optical coherence tomography may help identify Gaucher disease patients and carriers at increased risk of developing Parkinson's disease.
authors: Department of Clinical Neurosciences, UCL Institute of Neurology, UK.
authors: Alisdair
authors: A
authors: McNeill
authors: Gloria
authors: G
authors: Roberti
authors: Gerassimos
authors: G
authors: Lascaratos
authors: Derralynn
authors: D
authors: Hughes
authors: Atul
authors: A
authors: Mehta
authors: David F
authors: DF
authors: Garway-Heath
authors: Anthony H V
authors: AH
authors: Schapira
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000235:genetics / Q000473:pathology*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D012165:Retinal Ganglion Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence
chemical_list: D005962:Glucosylceramidase
references: J Neuroophthalmol. 2013 Mar;33(1):62-5
references: 23100041
references: Arch Ophthalmol. 2004 Sep;122(9):1395-8
references: 15364726
references: Mov Disord. 2012 Apr;27(4):526-32
references: 22344629
references: Brain. 2009 Dec;132(Pt 12):3298-307
references: 19843648
references: Neurol Sci. 2013 May;34(5):689-93
references: 22661077
references: Parkinsonism Relat Disord. 2011 Jul;17(6):431-6
references: 21454118
references: Neurochem Int. 2013 Jan;62(1):1-7
references: 23099359
references: Arch Ophthalmol. 2009 Jun;127(6):737-41
references: 19506190
references: Clin Ophthalmol. 2010 Dec 06;4:1427-32
references: 21188154
references: BMC Ophthalmol. 2012 Oct 02;12:54
references: 23031247
references: N Engl J Med. 2009 Oct 22;361(17):1651-61
references: 19846850
references: Ophthalmology. 2012 Oct;119(10):2161-7
references: 22749083
references: Mol Cell Neurosci. 2010 Jan;43(1):164-76
references: 19883762
references: Eye (Lond). 2013 Apr;27(4):507-14
references: 23429414