| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4030252 | Ophthalmology | 2007 | 9 Pages |
Abstract
A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease. Visual function in the 2 patients has not deteriorated with age, indicating that the disease is stationary. This is the first report of any patient with GRK1-associated Oguchi disease with markedly reduced cone responses.
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Authors
Takaaki MD, PhD, Tamaki MD, Tomokazu MD, Satoshi MD, Kenji MD, PhD,