Elucidation of etiology and pathological mechanisms of hereditary retinochoroidal diseases, familial glaucoma and congenital optic nerve atrophy by omics analysis

Item	Content
Research project name	Practical Research Project for Rare / Intractable Diseases
Study title	Elucidation of etiology and pathological mechanisms of hereditary retinochoroidal diseases, familial glaucoma and congenital optic nerve atrophy by omics analysis
Name of principal investigator	Takeshi Iwata
Name of institution of the principal investigator	Division of Molecular and Cellular Biology, Clinical Research Center, National Hospital Organization Tokyo Medical Center
Target disease	Hereditary chorioretinal disease group (36 diseases), familial glaucoma, familial optic atrophy
Registry name
Purpose of registry	Survey of natural history, Investigation into the number or the distribution of patients, Patient recruitment for clinical trials or other interventional studies, Application as a control group in clinical trials, Sample collection, Investigation of biomarkers, Genetic analysis study
Overview of registry	Management of patient information in an anonymized linkable fashion
Research item	Sex, Date of birth, Family history, Past medical history, Complication, History of present illness, Laboratory data, Degree of severity, Clinical course, QOL
Contact	Takeshi Iwata
E-mail address	takeshi.iwata●kankakuki.go.jp
Registry URL	http://www.eye.go.jp

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