Achromatopsia
Conditions
Keywords
Achromatopsia, CNGB3, CNGA3
Brief summary
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.
Interventions
DIAGNOSTIC_TESTOcular assessments
Complete ocular examination, Axial length and corneal curvature, Optical Coherence Tomography, Visual acuity, Contrast sensitivity
Sponsors
MeiraGTx UK II Ltd
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to 100 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Complete ocular examination | 5 years |
| Axial length | 5 years |
| Corneal curvature | 5 years |
| Optical Coherence Tomography | 5 years |
| Visual acuity | 5 years |
| Contrast sensitivity | 5 years |
Countries
United Kingdom
Outcome results
None listed