Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia

Claron D. Alldredge, Christopher R. Schlieve, Neil R Miller, Leonard A. Levin

Research output: Contribution to journalArticle

Abstract

Objectives: To describe the optic neuropathy associated with the genetic defect in Friedreich ataxia and suggest a pathophysiologic mechanism. Methods: An experimental model of retinal ganglion cell death in the presence of metal chelation was used to test a hypothetical mechanism for the optic neuropathy of Friedreich ataxia. Results: Study of cultured rat retinal ganglion cells suggests that abnormal regulation of intracellular iron levels could increase sensitivity to reactive oxygen species and lead to cell death in these metabolically active tissues. Conclusion: We hypothesize that decreased expression of frataxin, the mutated gene in Friedreich ataxia, could cause an optic neuropathy by increasing the sensitivity of retinal ganglion cells to oxidative stress.

Original languageEnglish (US)
Pages (from-to)1582-1585
Number of pages4
JournalArchives of Ophthalmology
Volume121
Issue number11
DOIs
StatePublished - Nov 2003

Fingerprint

Friedreich Ataxia
Optic Nerve Diseases
Retinal Ganglion Cells
Cell Death
Reactive Oxygen Species
Oxidative Stress
Theoretical Models
Iron
Metals
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia. / Alldredge, Claron D.; Schlieve, Christopher R.; Miller, Neil R; Levin, Leonard A.

In: Archives of Ophthalmology, Vol. 121, No. 11, 11.2003, p. 1582-1585.

Research output: Contribution to journalArticle

Alldredge, Claron D. ; Schlieve, Christopher R. ; Miller, Neil R ; Levin, Leonard A. / Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia. In: Archives of Ophthalmology. 2003 ; Vol. 121, No. 11. pp. 1582-1585.
@article{7a1691bd841d4ba0ab8e37a2dadacce1,
title = "Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia",
abstract = "Objectives: To describe the optic neuropathy associated with the genetic defect in Friedreich ataxia and suggest a pathophysiologic mechanism. Methods: An experimental model of retinal ganglion cell death in the presence of metal chelation was used to test a hypothetical mechanism for the optic neuropathy of Friedreich ataxia. Results: Study of cultured rat retinal ganglion cells suggests that abnormal regulation of intracellular iron levels could increase sensitivity to reactive oxygen species and lead to cell death in these metabolically active tissues. Conclusion: We hypothesize that decreased expression of frataxin, the mutated gene in Friedreich ataxia, could cause an optic neuropathy by increasing the sensitivity of retinal ganglion cells to oxidative stress.",
author = "Alldredge, {Claron D.} and Schlieve, {Christopher R.} and Miller, {Neil R} and Levin, {Leonard A.}",
year = "2003",
month = "11",
doi = "10.1001/archopht.121.11.1582",
language = "English (US)",
volume = "121",
pages = "1582--1585",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "11",

}

TY - JOUR

T1 - Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia

AU - Alldredge, Claron D.

AU - Schlieve, Christopher R.

AU - Miller, Neil R

AU - Levin, Leonard A.

PY - 2003/11

Y1 - 2003/11

N2 - Objectives: To describe the optic neuropathy associated with the genetic defect in Friedreich ataxia and suggest a pathophysiologic mechanism. Methods: An experimental model of retinal ganglion cell death in the presence of metal chelation was used to test a hypothetical mechanism for the optic neuropathy of Friedreich ataxia. Results: Study of cultured rat retinal ganglion cells suggests that abnormal regulation of intracellular iron levels could increase sensitivity to reactive oxygen species and lead to cell death in these metabolically active tissues. Conclusion: We hypothesize that decreased expression of frataxin, the mutated gene in Friedreich ataxia, could cause an optic neuropathy by increasing the sensitivity of retinal ganglion cells to oxidative stress.

AB - Objectives: To describe the optic neuropathy associated with the genetic defect in Friedreich ataxia and suggest a pathophysiologic mechanism. Methods: An experimental model of retinal ganglion cell death in the presence of metal chelation was used to test a hypothetical mechanism for the optic neuropathy of Friedreich ataxia. Results: Study of cultured rat retinal ganglion cells suggests that abnormal regulation of intracellular iron levels could increase sensitivity to reactive oxygen species and lead to cell death in these metabolically active tissues. Conclusion: We hypothesize that decreased expression of frataxin, the mutated gene in Friedreich ataxia, could cause an optic neuropathy by increasing the sensitivity of retinal ganglion cells to oxidative stress.

UR - http://www.scopus.com/inward/record.url?scp=0242695801&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242695801&partnerID=8YFLogxK

U2 - 10.1001/archopht.121.11.1582

DO - 10.1001/archopht.121.11.1582

M3 - Article

C2 - 14609915

AN - SCOPUS:0242695801

VL - 121

SP - 1582

EP - 1585

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 11

ER -