Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation
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In 1992, Weleber and Miyake described two families with optic disc atrophy whose full-field rod-cone electroretinogram (ERG) had a negative configuration, i.e. the amplitude of the b-wave was smaller than that of the a-wave . The patients developed a reduction of central vision in the 2nd to 3rd decade of life with pericentral or centrocecal scotomas. They had normal to mildly reduced scotopic and photopic b-wave amplitudes without other retinal abnormalities. The families showed a dominantly inherited pattern. Although dominant optic atrophy (ADOA) was a well-known disorder characterized by optic atrophy and autosomal dominant inheritance , it was generally believed that patients with ADOA had normal full-field ERG responses [3, 5], and no patient had been reported with a combination of optic atrophy and negative ERGs. Therefore, at that time, Weleber and Miyake suggested that this was a new genetic disorder .
Thereafter, we examined two additional unrelated...
KeywordsOptic atrophy Negative electroretinogram OPA1 gene Mutation Molecular biology
This study was supported by a Grant-in-Aid for Scientific Research (Dr. Nakamura, C16591746) from The Ministry of Education, Science, Sports and Culture, Japan.
- 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):1–146Google Scholar