Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

[摘要] Purpose: To present full ophthalmologicexamination and retinal nerve fiber layer (RNFL) photographs ofautosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)patients showing significant increases in RNFL thickness compared tohealthy subjects, but without myelinated retinal fibers. Methods: The study design wasobservational case series. Ten eyes of five patients with molecularconfirmation of ARSACS underwent a full ophthalmologic examination thatincluded clinical history, visual acuity, biomicroscopy of the anteriorsegment, gonioscopy, Goldmann applanation tonometry, central cornealultrasonic pachymetry, ophthalmoscopy of the posterior segment,standard automatic perimetry (Humphrey field), simultaneousstereophotographs of the optic disc after mydriasis, a series of fivered-free digital fundus photographs for RNFL evaluation, topographicanalysis of the optic disc using the Heidelberg retina tomography, andmeasurement of peripapillary RNFL thickness with Cirrus opticalcoherence tomography. Results: All patients showed abnormalvisual fields, normal optic discs with a mild to strikingly increasedvisibility of RNFL in color stereophotographs, normal Heidelbergtomography, and moderate to markedly increased RNFL thickness in Cirrustomography (average thickness ranging from 119 μm to 220 μm). Conclusions: We found evidence of RNFLhypertrophy in ARSACS patients that may have been interpreted ashypermyelinated retinal fibers in previous reports. A revision ofARSACS diagnostic criteria, particularly with regard to retinalalterations, is necessary.

[学科分类] 生物化学/生物物理