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Imagem do mês


O ERN-EYE lança a Imagem do Mês! A atividade clínica no campo das doenças raras gera um enorme número de imagens médicas, algumas das quais altamente artísticas, pouco comuns ou simplesmente bonitas. Envie-nos as suas melhores fotografias de doenças raras que envolvem o olho e nós publicaremos uma a cada mês. No final do ano, decorrerá uma votação para eleger a melhor imagem e o vencedor receberá um prémio simbólico.

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 (Click on the picture to enlarge it)

Retinal DystrophyPhoto showing a rounded macular atrophy of colobomatous appearance, bilateral involvement, noted since the youngest age of the patient, resulting in a moderate decrease in visual acuity, stable over time.
Suspected diagnosis: retinal dystrophy of familial North Caroline AD.

Copyright: Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CHU Strasbourg)



 (Click on the picture to enlarge it)

30-year old male patient with retinitis pigmentosa

30-year old male patient with retinitis pigmentosa. Hallmarks of the disease like attenuation of the retinal vessels and bone-spicule hyper pigmentation are well depicted on this FAF image. Additionally, large irregular multilobular hyperfluorescent deposits are located within the optic nerve head, compatible with optic nerve head drusen. These can be found in ~10% of RP patients.

 Copyright: Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal, João Pedro Marques



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Photo of a case in Stargardt disease

Flood-illumination adaptive optics ophthalmoscopy of a case in Stargardt disease showing RPE cells in the fovea (due to the loss of cones) and a ring of hyperreflective cones.

Copyright: CHNO XV-XX, Paris, France, Pr Michel Paques



 (Click on the picture to enlarge it)

Dario Giorgio, Dario Pasquale Mucciolo Eye Clinic Department of Surgery and Translational Medicine , University of Florence ,  ItalyThe picture shows the characteristic appearance of a 32- year old female affected with flecked retina. Fundus examination reveals multiple yellow white flecks with foveal sparing. Red free imaging shows multiple discrete round lesions located at the posterior pole. In SS-OCT, the lesions span across the retinal pigment epithelium complex and the photoreceptor inner segment ellipsoid band. 

Copyright: Dario Giorgio, Dario Pasquale Mucciolo Eye Clinic Department of Surgery and Translational Medicine, University of Florence,  Italy.



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Picture London 
Adaptive Optics Scanning Light Ophthalmoscopy (AOSLO) images from the retina of a young adult male affected with Stargardt disease. Left image is confocal AOSLO, middle image is non-confocal (split-detection) AOSLO and right image is dark field AOSLO of the exact same location. The complimentary nature of all three modalities is exemplified: dark field imaging depicts Retinal Pigment Epithelium (RPE) hexagonal cells delineating the foveal disruption whereas photoreceptor inner segments are seen on the border of the foveal disruption and outside of it in the split detection image irrespectively of the waveguiding properties of the photoreceptor outer segments in the confocal image.

 Copyright: Angelos Kalitzeos, UCL, London, UK

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