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The epidemiology of Stargardt disease

Session Details

Session Title: Imaging I

Session Date/Time: Friday 12/09/2014 | 11:00-13:00

Paper Time: 12:20

Venue: Boulevard D

First Author: : K.Spiteri Cornish UK

Co Author(s): :    J. Ho   S. Downes   N. Lois        

Abstract Details

Purpose:

Stargardt disease (STGD) is a recessively inherited macular dystrophy with a wide variability in age of onset, visual acuity, fundus appearance and severity of disease. At present, epidemiological data on STGD is lacking and there have been no prospective studies aimed to determine the incidence and baseline characteristics of patients presenting with this retinal disease. We have conducted the present epidemiology study under the auspices of the British Ophthalmological Surveillance Unit (BOSU), which represents the first national prospective epidemiology study on STGD, providing essential information on the disease.

Setting:

We have conducted the study under the auspices of the British Ophthalmological Surveillance Unit (BOSU), a Unit supported by the Royal College of Ophthalmologists.

Methods:

All newly diagnosed cases were identified through the BOSU reporting system. All nationwide reporters were sent an incident and follow-up questionnaire to gather information on patient demographics, symptoms, age of onset and baseline information including visual acuity, findings on fundus examination and other ancillary studies including electrophysiology, fluorescein angiography and fundus autofluorescence, if available.

Results:

84 cases were reported, and 5 were excluded (previously diagnosed, not incident cases). 67/79 questionnaires were returned (85% response rate). 41 (61%) were female. Mean age of presentation was 28 years (range 4-58). Incidence of the disease was calculated at 1.05 per million. Autofluoresence was done in 29 cases, with foci of increased signal being the commonest finding (55%).Dark choroid was present in 84.6% of all fluorescein angiography performed. Electrodiagnostic and genetic results, together with baseline patient demographics will be presented.

Conclusions:

This is the first epidemiological study performed on Stargardt disease. Our study gives a more accurate measure of the incidence of the disease, and sheds light on the baseline demographics of patients with the disease at diagnosis. It also aids in the understanding of how diagnosis is made and which imaging modalities are more useful. This information will be extremely helpful in the current stem cell research and future studies on possible management of the disease.

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