Achromatopsia Clinical Trial
Official title:
Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials
In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.
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