PubMed

Importance of molecular testing in dominant optic atrophy.

Patel N, Churchill AJ, Toomes C, Marchbank NJ, Inglehearn CF, Foulds N, Moosavi A, Teimory M.

Br J Ophthalmol. 2002 Nov;86(11):1314-5. No abstract available. PMID: 12386098 [PubMed - indexed for MEDLINE]Related articlesFree article

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Gränse L, Bergstrand I, Thiselton D, Ponjavic V, Heijl A, Votruba M, Andréasson S.

Ophthalmic Genet. 2003 Dec;24(4):233-45.PMID: 14566653 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H.

Ophthalmology. 2006 Mar;113(3):483-488.e1.PMID: 16513463 [PubMed - indexed for MEDLINE]Related articles

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Ban Y, Yoshida Y, Kawasaki S, Mochida C.

Graefes Arch Clin Exp Ophthalmol. 2007 Oct;245(10):1581-3. Epub 2007 Jun 20. No abstract available. PMID: 17579882 [PubMed - indexed for MEDLINE]Related articles

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1]

Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N.

Nippon Ganka Gakkai Zasshi. 2002 Jul;106(7):398-403. Japanese. PMID: 12187822 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA.

Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.PMID: 17306754 [PubMed - indexed for MEDLINE]Related articles

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.

Am J Ophthalmol. 2004 Nov;138(5):749-55.PMID: 15531309 [PubMed - indexed for MEDLINE]Related articles

Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation.

Yoshida S, Yamaji Y, Yoshida A, Kuwahara R, Fujisawa K, Ishibashi T.

Can J Ophthalmol. 2006 Oct;41(5):614-6.PMID: 17016536 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N.

Am J Ophthalmol. 2003 Feb;135(2):256-7.PMID: 12566046 [PubMed - indexed for MEDLINE]Related articles

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.

Yamada T, Hayasaka S, Matsumoto M, Budu, Esa T, Hayasaka Y, Endo M, Nagaki Y, Fujiki K, Murakami A, Kanai A.

Jpn J Ophthalmol. 2003 Jul-Aug;47(4):409-11.PMID: 12842213 [PubMed - indexed for MEDLINE]Related articles

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.

Hum Mutat. 2003 Jun;21(6):656.PMID: 14961560 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Jul 24.PMID: 18653586 [PubMed - indexed for MEDLINE]Related articles

[Hereditary optic atrophies. Study of a family with dominant autosomal optic atrophy]

Sebastián de Erice M, Romero López J, Navarro Esteban J, Jiménez F, Soto Faure L.

Rev Clin Esp. 1981 Dec 15;163(5):341-3. Spanish. No abstract available. PMID: 7342192 [PubMed - indexed for MEDLINE]Related articles

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF.

J Med Genet. 2002 Aug;39(8):e47. No abstract available. PMID: 12161614 [PubMed - indexed for MEDLINE]Related articlesFree article

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.

Brown MD, Hosseini S, Steiner I, Wallace DC, Korn-Lubetzki I.

Mov Disord. 2004 Feb;19(2):235-7.PMID: 14978686 [PubMed - indexed for MEDLINE]Related articles

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Votruba M, Thiselton D, Bhattacharya SS.

Br J Ophthalmol. 2003 Jan;87(1):48-53.PMID: 12488262 [PubMed - indexed for MEDLINE]Related articlesFree article

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E.

Acta Ophthalmol Scand. 2005 Jun;83(3):337-46.PMID: 15948788 [PubMed - indexed for MEDLINE]Related articles

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

Chen S, Zhang Y, Wang Y, Li W, Huang S, Chu X, Wang L, Zhang M, Liu Z.

Am J Ophthalmol. 2007 Jan;143(1):186-188.PMID: 17188070 [PubMed - indexed for MEDLINE]Related articles

[A family with a dominant infantile optic atrophy (author's transl)]

Oguchi Y.

Nippon Ganka Gakkai Zasshi. 1977 May 10;81(5):400-4. Japanese. No abstract available. PMID: 561525 [PubMed - indexed for MEDLINE]Related articles

Tritan pedigree without optic-nerve atrophy.

Higgins KE, Brooks DN, Gottschalk G.

Am J Optom Physiol Opt. 1983 Dec;60(12):964-9.PMID: 6606981 [PubMed - indexed for MEDLINE]Related articles