Analysis of patients with rare retinal diseases
Research type
Research Database
IRAS ID
300637
Contact name
Peter Charbel Issa
Contact email
Research summary
Analysis of patients with rare retinal diseases
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
22/YH/0156
Date of REC Opinion
10 Aug 2022
REC opinion
Unfavourable Opinion
Data collection arrangements
The clinical presentation of rare retinal diseases is often not described in the literature in detail using state of art phenotyping, although this is performed on daily basis in retinal clinics. Moreover, today’s routine imaging modalities, genotyping, and other biomarker studies, occasionally reveal previously not identified phenotypic characteristics. However, such insights are often not reported, although improved knowledge would result in better diagnostic and prognostic patient care and would enable improved patient counselling.
Hence, the aim of this project is to establish a database to be able to provide detailed clinical information on rare eye diseases – single cases or where possible case series. This will be accomplished by retrospectively analysing clinical data of similar cases even if they were seen in clinic years apart.
Research programme
Research programmes investigating the natural history, variability and diagnostic approaches of rare eye diseases will be supported by the database. Applications can be submitted to the database panel who will assess each application based on its merit and the availability of the requested data in the database. Patients with rare eye diseases will also benefit from the database as we expect it will give a better insight into their disease variability, hereditability and potential complications or outcomes.
Research database title
Analysis of patients with rare retinal diseases
Establishment organisation
Oxford Eye Hospital
Establishment organisation address
John Radcliffe Hospital, Headley Way
Headington
Oxford
OX3 9DU