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

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 244, Issue 2, 2006, Pages 274-275

  Nakamura, Makoto ^a   Miyake, Yozo ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Molecular biology; Mutation; Negative electroretinogram; OPA1 gene; Optic atrophy

Indexed keywords

EYE PROTEIN; PROTEIN OPA1; UNCLASSIFIED DRUG;

A WAVE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT OPTIC ATROPHY; B WAVE; CENTRAL SCOTOMA; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; JAPAN; LETTER; NUCLEIC ACID BASE SUBSTITUTION; OSCILLATORY POTENTIAL; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL ACUITY; VISUAL IMPAIRMENT;

ELECTRORETINOGRAPHY; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT;

EID: 33644499128     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-005-0050-3     Document Type: Letter

References (6)

1. 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 26:211-215
2. 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 26:207-210
3. 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
4. Weleber RG, Miyake Y (1992) Familial optic atrophy with negative electroretinograms. Arch Ophthalmol 110:640-645
5. Yagasaki K, Miyake Y, Awaya S, Ichikawa H (1986) ERG (electroretinogram) in hereditary optic atrophies. Nippon Ganka Gakkai Zasshi 90:124-130
6. 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 42:1610-1616