A novel mutation in the OPA1 gene in a Japanese patient with optic atrophySatoko Shimizu
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
Am J Ophthalmol 135:256-7. 2003
..To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient...
- A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1
Satoko Shimizu
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
Jpn J Ophthalmol 46:336-40. 2002
..It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients...
- [A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1]
Satoko Shimizu
Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo 173-8605, Japan
Nippon Ganka Gakkai Zasshi 106:398-403. 2002
..It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients...
- Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles
Satoko Shimizu
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
Jpn J Ophthalmol 49:443-7. 2005
..To report recurrent mutation of the KIF21A gene in three Japanese families in which some members have congenital fibrosis of the extraocular muscles type 1 (CFEOM1), and to describe the clinical characteristics of the families...
Vestibular dysfunction in a Japanese patient with a mutation in the gene OPA1Kunio Mizutari
Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan
J Neurol Sci 293:23-8. 2010
..Based on this case, we suggest that vestibular evaluation should be performed in auditory neuropathy patients carrying an OPA1 mutation, even if the patients are free of symptoms of vestibular dysfunction...
- Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy
Sayoko E Moroi
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
Am J Ophthalmol 135:461-70. 2003
..To evaluate the clinical history, histopathology, and genetics of posterior polymorphous corneal dystrophy (PPMD) in a woman with a prominent retrocorneal membrane...
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10Satoko Shimizu
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Am J Med Genet A 130:372-7. 2004
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