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Stargardt disease - an interesting clinical case

Poster Details

First Author: I.Gama PORTUGAL

Co Author(s):    L. Almeida   M. Monteiro-Grillo               0   0 0   0 0   0 0   0 0

Abstract Details


Stargardt disease (SD) is an hereditary macular dystrophy, characterized by bilateral macular atrophy, central vision impairment, and the frequent presence of prominent flecks in the posterior pole of the retina. SD is most commonly inherited as an autosomal-recessive trait, related to mutations in the ABCA4 gene (1p21-p13). Fundus changes include a “beaten-bronze” macular appearance, geographic macular atrophy and yellow flecks that can have a characteristic pisciform shape. A “dark” or “silent” choroid may be seen with fluorescein angiography in 70%-85% of cases. The authors present a clinical case of Stargardt disease without the characteristic angiographic sign of “dark” choroid.


Description of a clinical case of a patient followed in Ophthalmology Consult - Ophthalmology Department of Hospital Santa Maria - Centro Hospitalar Lisboa Norte, Lisbon, Portugal


Description of a clinical case of a 29-year-old woman who came to ophthalmology office for progressive visual impairment since childhood, without history of similar symptoms in other member of her family and without any personal history of systemic diseases or medication. Full ophthalmological evaluation was done, as well as colour testing with Farnworth D15 panel and complementary exams such as retinography, fundus autofluorescence, computerized static perimetry, spectral-domain optical coherence tomography (OCT) fluorescein angiography, full-field and multifocal electroretinography (ERG), and electrooculography (EOG).


The best corrected visual acuity was right eye (RE) 1/10 and 1/10 in left eye (LE). Dilated fundoscopy showed bilateral central macular atrophy with yellow flecks characteristic of SD. Full-field ERG was normal in RE and LE, but multifocal ERG was profoundly abnormal in central testing rings of macular region bilaterally. Fundus autofluorescence (AF) showed bilateral abnormal AF in macular region, with zones of increased and decreased AF. Fluorescein angiography showed macular hyperfluorescence due to macular atrophy , but “dark” choroid sign wasn’t present. OCT showed foveal atrophy of photoreceptor layer, with disruption of the photoreceptor inner segment/ outer-segment junction line in foveal region. EOG was normal.


The clinical history, the results of clinical evaluation with bilateral macular atrophy and yellow flecks and the results of complementary exams lead to the diagnosis of Stargardt disease. OCT is an important exam to reveal foveal atrophy with abnormalities of photoreceptor layer. Multifocal ERG is fundamental to show macular disfunction in cases of SD with normal full-field ERG. Multifocal ERG and OCT are important non-invasive exams in SD. Fluorescein angiography is a gold standard in evaluation of SD patients. SD without the characteristic “dark choroid” sign in fluorescein angiography isn’t frequent. The absence of this characteristic sign doesn’t exclude the diagnosis of SD.

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