|Principal Investigator: Paul Bernstein|
|Keywords: EyeGene , genetic testing , genotyping||Department: Ophthalmology-Services|
|IRB Number: 00020555||Co Investigator: Alan Crandall|
|Recruitment Status: Active, not recruiting|
The overall goals of eyeGENE are: • To provide a repository of DNA coupled to anonymous phenotypic information for researchers • To provide molecular diagnosis to patients with inherited eye diseases • To establish genotype-phenotype correlations for rare eye diseases • To enhance recruitment for clinical trials and investigations in inherited eye diseases This initial protocol (Stage 1-- Creation of Repository for Inherited Ophthalmic Diseases) is designed to accomplish the first two of these goals, while keeping the latter two aims in mind.
Participants of any age may be included if they are affected by one of the eye diseases studied.
1. To participate in this protocol, the participant or his/her appropriate representative must sign the protocol’s informed consent/assent.
2. The participant must present with characteristics consistent with a diagnosis included in eyeGENE® as determined by the referring clinician and the eyeGENE® clinical reviewers in the eyeGENE® Working Group, and that meet the clinical criteria established by eyeGENE
3. The participant must be willing and able to provide a suitable blood sample to yield the acceptable amount more than 50 µg of DNA.
1. Participant presents with severe systemic disease(s) that compromise the investigator’s ability to provide adequate examination.
2. Age will be exclusionary only with regard to difficulties and limitations of phlebotomy and clinical examination.
3. Participants with impaired decision-making capabilities for whom there is no clear designated representative.