Cone (rod) dystrophy: identification of the molecular defects and clinical consequences

Recruiting

• Conditions: (juvenile) macula degeneration of macular/cone dysfunction; 10015920

• Registration Number: NL-OMON31001
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 350

Inclusion Criteria

<50 years
decreased visual acuity in all three axes
color vision defects
decreased or absent photopic ERG
central scotoma on visual field

Exclusion Criteria

> 50 years
normal visual acuity
normal color vision
normal ERG responses
no central scotoma

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Primary study parameters<br /><br>These are genetic mutations and haplotypes.<br /><br><br /><br>Primary outcome of the study<br /><br>CORD. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secundary study parameters<br /><br>Age, sexe, tabacco intake, UV-exposition, intake of anti-oxidants and<br /><br>omega-3-lipids (DHA en EPA), vascular co-morbidity<br /><br><br /><br><br /><br>Secundary outcome<br /><br>Visual acuity, age of onset, quantification of color vision defects, photopic<br /><br>ERG responses, bull's eye maculopathy</p><br>