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Items: 1 to 50 of 58

1.

The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy.

Mackey DA, Kearns LS.

Clin Exp Ophthalmol. 2019 Aug;47(6):704-705. doi: 10.1111/ceo.13586. No abstract available.

PMID:
31397049
2.

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE.

JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646.

3.

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study - GWAS group, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; Wellcome Trust Case Control Consortium 2 (WTCCC2); NEIGHBORHOOD consortium, Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S.

Nat Commun. 2019 Jan 8;10(1):155. doi: 10.1038/s41467-018-07819-1.

4.

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.

Singh LN, Crowston JG, Lopez Sanchez MIG, Van Bergen NJ, Kearns LS, Hewitt AW, Yazar S, Mackey DA, Wallace DC, Trounce IA.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4598-4602. doi: 10.1167/iovs.18-25085.

5.

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P, Bailey JNC, Willoughby CE, Li X, Yazar S, Nag A, Khawaja AP, Polašek O, Siscovick D, Mitchell P, Tham YC, Haines JL, Kearns LS, Hayward C, Shi Y, van Leeuwen EM, Taylor KD; Blue Mountains Eye Study—GWAS group, Bonnemaijer P, Rotter JI, Martin NG, Zeller T, Mills RA, Souzeau E, Staffieri SE, Jonas JB, Schmidtmann I, Boutin T, Kang JH, Lucas SEM, Wong TY, Beutel ME, Wilson JF; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden AG, Vithana EN, Foster PJ, Hysi PG, Hewitt AW, Khor CC, Pasquale LR, Montgomery GW, Klaver CCW, Aung T, Pfeiffer N, Mackey DA, Hammond CJ, Cheng CY, Craig JE, Rabinowitz YS, Wiggs JL, Burdon KP, van Duijn CM, MacGregor S.

Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6. Erratum in: Nat Commun. 2019 Jan 8;10(1):155.

6.

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign.

Staffieri SE, Kearns LS, Sanfilippo PG, Craig JE, Mackey DA, Hewitt AW.

Transl Vis Sci Technol. 2018 Feb 15;7(1):18. doi: 10.1167/tvst.7.1.18. eCollection 2018 Feb.

7.

Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial.

Gao TY, Guo CX, Babu RJ, Black JM, Bobier WR, Chakraborty A, Dai S, Hess RF, Jenkins M, Jiang Y, Kearns LS, Kowal L, Lam CSY, Pang PCK, Parag V, Pieri R, Raveendren RN, South J, Staffieri SE, Wadham A, Walker N, Thompson B; BRAVO Study Team.

JAMA Ophthalmol. 2018 Feb 1;136(2):172-181. doi: 10.1001/jamaophthalmol.2017.6090.

8.

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

Bursle C, Riney K, Stringer J, Moore D, Gole G, Kearns LS, Mackey DA, Coman D.

JIMD Rep. 2018;42:53-60. doi: 10.1007/8904_2017_79. Epub 2017 Dec 17.

9.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE.

Eur J Hum Genet. 2017 Nov;25(11):1290. doi: 10.1038/ejhg.2017.147.

10.

Generation of a human induced pluripotent stem cell line CERAi001-A-6 using episomal vectors.

Wong RCB, Hung SS, Jackson S, Singh V, Khan S, Liang HH, Kearns LS, Nguyen T, Conquest A, Daniszewski M, Hewitt AW, Pébay A.

Stem Cell Res. 2017 Jul;22:13-15. doi: 10.1016/j.scr.2017.05.007. Epub 2017 May 19.

11.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE.

Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Erratum in: Eur J Hum Genet. 2017 Nov;25(11):1290.

12.

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy.

Wong RCB, Lim SY, Hung SSC, Jackson S, Khan S, Van Bergen NJ, De Smit E, Liang HH, Kearns LS, Clarke L, Mackey DA, Hewitt AW, Trounce IA, Pébay A.

Aging (Albany NY). 2017 Apr;9(4):1341-1350. doi: 10.18632/aging.101231.

13.

Development of a Modular Automated System for Maintenance and Differentiation of Adherent Human Pluripotent Stem Cells.

Crombie DE, Daniszewski M, Liang HH, Kulkarni T, Li F, Lidgerwood GE, Conquest A, Hernández D, Hung SS, Gill KP, De Smit E, Kearns LS, Clarke L, Sluch VM, Chamling X, Zack DJ, Wong RCB, Hewitt AW, Pébay A.

SLAS Discov. 2017 Sep;22(8):1016-1025. doi: 10.1177/2472555217696797. Epub 2017 Mar 13.

PMID:
28287872
14.

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, Gibson J, Bailey JN, Vithana EN, Gharahkhani P, Boutin T, Ramdas WD, Zeller T, Luben RN, Yonova-Doing E, Viswanathan AC, Yazar S, Cree AJ, Haines JL, Koh JY, Souzeau E, Wilson JF, Amin N, Müller C, Venturini C, Kearns LS, Kang JH; NEIGHBORHOOD Consortium, Tham YC, Zhou T, van Leeuwen EM, Nickels S, Sanfilippo P, Liao J, van der Linde H, Zhao W, van Koolwijk LM, Zheng L, Rivadeneira F, Baskaran M, van der Lee SJ, Perera S, de Jong PT, Oostra BA, Uitterlinden AG, Fan Q, Hofman A, Tai ES, Vingerling JR, Sim X, Wolfs RC, Teo YY, Lemij HG, Khor CC, Willemsen R, Lackner KJ, Aung T, Jansonius NM, Montgomery G, Wild PS, Young TL, Burdon KP, Hysi PG, Pasquale LR, Wong TY, Klaver CC, Hewitt AW, Jonas JB, Mitchell P, Lotery AJ, Foster PJ, Vitart V, Pfeiffer N, Craig JE, Mackey DA, Hammond CJ, Wiggs JL, Cheng CY, van Duijn CM, MacGregor S.

Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399.

15.

Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

Mackey DA, Kearns LS, Hewitt AW.

Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):253-5. doi: 10.1097/APO.0000000000000220. Review.

PMID:
27488066
16.

Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking.

McCaughey T, Chen CY, De Smit E, Rees G, Fenwick E, Kearns LS, Mackey DA, MacGregor C, Munsie M, Cook AL, Pébay A, Hewitt AW.

Cell Tissue Bank. 2016 Sep;17(3):449-56. doi: 10.1007/s10561-016-9563-8. Epub 2016 Jun 14.

17.

Response: Cycloplegia in refraction: age and cycloplegics.

Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, Young TL, Hammond CJ, Hewitt AW, Mackey DA.

Acta Ophthalmol. 2016 Aug;94(5):e373. doi: 10.1111/aos.13082. Epub 2016 May 11. No abstract available.

18.

Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study.

De Smit E, Kearns LS, Clarke L, Dick J, Hill CL, Hewitt AW.

Australas Med J. 2016 Feb 29;9(2):33-9. doi: 10.4066/AMJ.2015.2587. eCollection 2016.

19.

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.

Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. No abstract available.

20.

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.

Van Bergen NJ, Crowston JG, Craig JE, Burdon KP, Kearns LS, Sharma S, Hewitt AW, Mackey DA, Trounce IA.

PLoS One. 2015 Oct 23;10(10):e0140919. doi: 10.1371/journal.pone.0140919. eCollection 2015.

21.

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.

Souzeau E, Hayes M, Ruddle JB, Elder JE, Staffieri SE, Kearns LS, Mackey DA, Zhou T, Ridge B, Burdon KP, Dubowsky A, Craig JE.

Mol Vis. 2015 Feb 11;21:160-4. eCollection 2015.

22.

Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review.

Sanfilippo PG, Kearns LS, Wright P, Mackey DA, Hewitt AW.

Clin Exp Ophthalmol. 2015 Aug;43(6):578-90. doi: 10.1111/ceo.12508. Epub 2015 Apr 27. Review.

23.

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A; NEIGHBORHOOD Consortium, Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RC, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CC, Craig JE, Young TL, Haines JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ.

Genet Epidemiol. 2015 Mar;39(3):207-16. doi: 10.1002/gepi.21886. Epub 2015 Jan 28.

24.

What is the appropriate age cut-off for cycloplegia in refraction?

Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, Young TL, Hammond CJ, Hewitt AW, Mackey DA.

Acta Ophthalmol. 2014 Sep;92(6):e458-62. doi: 10.1111/aos.12388. Epub 2014 Mar 19.

25.

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.

Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, Pennell C, Montgomery GW, Young TL, Hammond CJ, Macgregor S, Mackey DA, Hewitt AW.

Mol Vis. 2013 Jun 6;19:1238-46. Print 2013.

26.

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.

Young TK, Souzeau E, Liu L, Kearns LS, Burdon KP, Craig JE, Ruddle JB.

Mol Vis. 2012;18:3064-9. Epub 2012 Dec 28.

27.

Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.

Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, Barbour JM, Hewitt AW, Ge D, Snieder H, Mackinnon JR, Brown SA, Lorenz B, Spector TD, Martin NG, Wilmer JB, Mackey DA.

Twin Res Hum Genet. 2012 Oct;15(5):624-30. doi: 10.1017/thg.2012.22. Epub 2012 Jun 13.

PMID:
22877876
28.

The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure.

Sherwin JC, Hewitt AW, Coroneo MT, Kearns LS, Griffiths LR, Mackey DA.

Invest Ophthalmol Vis Sci. 2012 Jul 1;53(8):4363-70. doi: 10.1167/iovs.11-8677.

PMID:
22669720
29.

Quantitative analysis of retinal vessel attenuation in eyes with retinitis pigmentosa.

Ma Y, Kawasaki R, Dobson LP, Ruddle JB, Kearns LS, Wong TY, Mackey DA.

Invest Ophthalmol Vis Sci. 2012 Jun 28;53(7):4306-14. doi: 10.1167/iovs.11-8596.

PMID:
22661482
30.

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.

Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.

PMID:
22574936
31.

The association between pterygium and conjunctival ultraviolet autofluorescence: the Norfolk Island Eye Study.

Sherwin JC, Hewitt AW, Kearns LS, Griffiths LR, Mackey DA, Coroneo MT.

Acta Ophthalmol. 2013 Jun;91(4):363-70. doi: 10.1111/j.1755-3768.2011.02314.x. Epub 2011 Dec 16.

32.

The role of toll-like receptor variants in acute anterior uveitis.

Pratap DS, Lim LL, Wang JJ, Mackey DA, Kearns LS, Stawell RJ; Wellcome Trust Case Control Consortium 2, Burdon KP, Mitchell P, Craig JE, Hall AJ, Hewitt AW.

Mol Vis. 2011;17:2970-7. Epub 2011 Nov 16.

33.

Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.

Rance G, Kearns LS, Tan J, Gravina A, Rosenfeld L, Henley L, Carew P, Graydon K, O'Hare F, Mackey DA.

J Neurol. 2012 Mar;259(3):542-50. doi: 10.1007/s00415-011-6230-7. Epub 2011 Sep 2.

PMID:
21887510
34.

Telemedicine model to prevent blindness from familial glaucoma.

Staffieri SE, Ruddle JB, Kearns LS, Barbour JM, Edwards TL, Paul P, Mackey DA.

Clin Exp Ophthalmol. 2011 Nov;39(8):760-5. doi: 10.1111/j.1442-9071.2011.02556.x. Epub 2011 Apr 27.

PMID:
21749595
35.

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA.

PLoS One. 2011;6(6):e21347. doi: 10.1371/journal.pone.0021347. Epub 2011 Jun 22.

36.

Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study.

Sherwin JC, Kelly J, Hewitt AW, Kearns LS, Griffiths LR, Mackey DA.

Clin Exp Ophthalmol. 2011 Nov;39(8):734-42. doi: 10.1111/j.1442-9071.2011.02579.x. Epub 2011 Jun 14.

PMID:
21631679
37.

Ophthalmic phenotypes and the representativeness of twin data for the general population.

Sanfilippo PG, Medland SE, Hewitt AW, Kearns LS, Ruddle JB, Sun C, Hammond CJ, Young TL, Martin NG, Mackey DA.

Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5565-72. doi: 10.1167/iovs.11-7258.

38.

Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study.

Sherwin JC, Hewitt AW, Kearns LS, Coroneo MT, Griffiths LR, Mackey DA.

Eye (Lond). 2011 Jul;25(7):893-900. doi: 10.1038/eye.2011.83. Epub 2011 Apr 15.

39.

Prevalence of chronic ocular diseases in a genetic isolate: the Norfolk Island Eye Study (NIES).

Sherwin JC, Kearns LS, Hewitt AW, Ma Y, Kelly J, Griffiths LR, Mackey DA.

Ophthalmic Epidemiol. 2011 Apr;18(2):61-71. doi: 10.3109/09286586.2010.545933.

PMID:
21401413
40.

The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty).

Mackey DA, Sherwin JC, Kearns LS, Ma Y, Kelly J, Chu BS, Macmillan R, Barbour JM, Wilkinson CH, Matovinovic E, Cox HC, Bellis C, Lea RA, Quinlan S, Griffiths LR, Hewitt AW.

Twin Res Hum Genet. 2011 Feb;14(1):42-52. doi: 10.1375/twin.14.1.42.

41.

Classification of iris colour: review and refinement of a classification schema.

Mackey DA, Wilkinson CH, Kearns LS, Hewitt AW.

Clin Exp Ophthalmol. 2011 Jul;39(5):462-71. doi: 10.1111/j.1442-9071.2010.02487.x. Epub 2011 Mar 16. Review.

PMID:
21176045
42.

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, Staffieri S, Daggett HT, Hewitt AW, Mackey DA.

Eye (Lond). 2011 Feb;25(2):208-17. doi: 10.1038/eye.2010.180. Epub 2010 Nov 26.

43.

Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: the Australian Twins Eye Study.

Sun C, Ponsonby AL, Brown SA, Kearns LS, Mackinnon JR, Barbour JM, Ruddle JB, Hewitt AW, Wright MJ, Martin NG, Dwyer T, Mackey DA.

Am J Ophthalmol. 2010 Dec;150(6):909-16. doi: 10.1016/j.ajo.2010.06.028.

PMID:
20970773
44.

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.

Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Erratum in: Am J Hum Genet. 2016 Mar 3;98(3):592.

45.

Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?

Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA.

Ophthalmic Genet. 2010 Mar;31(1):44-6. doi: 10.3109/13816810903479842.

PMID:
20141358
46.

Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.

Hewitt AW, Wu J, Green CM, Lai T, Kearns LS, Craig JE, Mackey DA.

Acta Ophthalmol. 2010 Feb;88(1):70-4. doi: 10.1111/j.1755-3768.2009.01786.x. Epub 2009 Dec 16.

47.

Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.

Mackey DA, Mackinnon JR, Brown SA, Kearns LS, Ruddle JB, Sanfilippo PG, Sun C, Hammond CJ, Young TL, Martin NG, Hewitt AW.

Twin Res Hum Genet. 2009 Oct;12(5):441-54. doi: 10.1375/twin.12.5.441.

48.

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.

Br J Ophthalmol. 2009 Sep;93(9):1151-4. doi: 10.1136/bjo.2008.153908. Epub 2009 May 7.

PMID:
19429592
49.

Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania.

Sun C, Ponsonby AL, Wong TY, Brown SA, Kearns LS, Cochrane J, MacKinnon JR, Ruddle JB, Hewitt AW, Liew G, Dwyer T, Scurrah K, Mackey DA.

Hypertension. 2009 Mar;53(3):487-93. doi: 10.1161/HYPERTENSIONAHA.108.125914. Epub 2009 Jan 12.

PMID:
19139377
50.

The natural history of OPA1-related autosomal dominant optic atrophy.

Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA.

Br J Ophthalmol. 2008 Oct;92(10):1333-6. doi: 10.1136/bjo.2007.134726. Epub 2008 Jul 24.

PMID:
18653586

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