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Norrie disease (ND) Registry
Patients with Norrie disease or allelic variants including other congenital bilateral eye conditions; bilateral persistent hyperplastic primary vitreous (PHPV),
X-linked (or unknown inheritance pattern) familial exudative vitreoretinopathy (FEVR), and Coats disease are being sought for participation in a clinical registry through the Harvard Partners Center for Genetics and Genomics and the Neurogenetics DNA Diagnostic Lab, MGH ( www.dnalab.org ). We will enroll cases with or without molecular genetic confirmation. The registry involves completion of a clinical questionnaire and signed consent. If genetic testing has not been done, we do offer genetic testing in our CLIA certified lab.(mutational screening, deletion analysis, linkage)
Goals of the Norrie Registry include attaining a greater understanding of the clinical manifestations and of NDP gene mutations, understanding the clinical course of Norrie disease, and uncovering genotype/phenotype correlations. Further description of ND Registry and contact information are available on the website, or by contacting Katherine Sims, M.D. (ksims@partners.org; 617.726.5718). Your assistance in this project is deeply appreciated!