Natural History Study for Achromatopsia

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.

Inclusion Criteria:

• Patients with molecularly proven Achromatopsia or a typical clinical Achromatopsia phenotype with genetic screening pending.
• Minimum subject age of 3 years.
• Able to give consent/parent or guardian able to give consent.

Exclusion Criteria:

• Patients unable or unwilling to undertake consent or clinical testing.
• Patients unwilling to donate a blood sample in order to establish the genetic cause of their condition.