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Graefe's Archive for Clinical and Experimental Ophthalmology

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01-02-2006 | Letter to the Editor

Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation

Authors: Makoto Nakamura, Yozo Miyake

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 2/2006

Excerpt

Dear Editor: …

Alexander C, Votruba M, Pesch UE et al (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211–215CrossRefPubMed

Delettre C, Lenaers G, Griffoin JM et al (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207–210CrossRefPubMed

Kjer P (1959) Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand 37(suppl 54):1–146

Weleber RG, Miyake Y (1992) Familial optic atrophy with negative electroretinograms. Arch Ophthalmol 110:640–645PubMed

Yagasaki K, Miyake Y, Awaya S, Ichikawa H (1986) ERG (electroretinogram) in hereditary optic atrophies. Nippon Ganka Gakkai Zasshi 90:124–130PubMed

Nakamura M, Ito S, Terasaki H, Miyake Y (2001) Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest Ophthalmol Vis Sci 42:1610–1616PubMed

Title: Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation
Authors: Makoto Nakamura
Yozo Miyake
Publication date: 01-02-2006
Publisher: Springer-Verlag
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 2/2006
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-005-0050-3

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Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation

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