inherited retinal degenerative disease registry

Conditions: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

Summary: the my retina tracker® registry is sponsored by the foundation fighting blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the foundation. it is a patient-initiated registry accessible via a secure on-line portal at www.myretinatracker.org. affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. the participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. the overall goals of the registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

my retina tracker registry provides two portals for data entry and review. initial registration in the my retina tracker registry is initiated by a participant, not a clinician. using the participant portal, the participant establishes a username and password, is guided through on-line informed consent, and can then use an interactive guide to record their ophthalmic and family history, genotype and other subjective diagnosis-related and general health information. drop-down menus and standardized vocabulary are used for database consistency. they may also attach documents, such as medical records, to maintain their personal medical files on their disease. participants are encouraged to update their profiles regularly to create a longitudinal history of their disease. participants can see aggregated data for all other participants in the registry and compare their own disease and status to others. after a profile has been established, registry members may ask their clinician or genetic counselor to add specific ophthalmic exam and measurement results to the profile. this is done through the clinical portal which also uses a series of drop-down menus to expedite entry and standardize data. clinicians cannot see the participant data when adding the clinical exam data. participants are encouraged to collect this data at each medical exam, to create a longitudinal clinical data set. access to de-identified data or study recruitment assistance is available to qualified investigators who may inquire by contacting coordinator@myretinatracker.org. a process that maintains patient anonymity and privacy protection, exists for researchers with institutional review board-approved projects who wish to contact registry participants of interest.

Eligibility criteria:
inclusion criteria: * diagnosed with an inherited retinal degenerative disease or exclusion criteria: * glaucoma only * diabetic retinopathy only * non-retinal disease * not heritable retinal disease

Keywords: inherited retinal degenerative disease retinitis pigmentosa usher leber bardet-biedl batten best cone dystrophy cone-rod dystrophy choroideremia congenital night blindness enhanced s-cone cone monochromacy goldmann-favre kearns-sayre refsum retinoschisis rod-cone dystrophy rod dystrophy rod monochromacy sorsby pseudoinflammatory dystrophy stargardt achromatopsia juvenile inherited macular degeneration cone dichromacy cone trichromacy charcot-marie-tooth albipunctate dystrophy