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TitreA novel association of Cowden syndrome and combined hamartoma of retina and retinal pigment epithelium
Abstract Nr.131
ButTo describe a patient with Cowden syndrome, the multiple hamartoma and neoplasia syndrome, who was diagnosed with a unilateral combined hamartoma of retina and retinal pigment epithelium(CHR-RPE).
MéthodesA 27-year old lady presented with a history of headaches. She also suffered from thyroid enlargement. She underwent imaging of the brain, full ophthalmologic and genetic work-up.
RésultatsExamination for a history of headaches revealed an anomalous right optic disc on top of bilateral papilloedema. MRI scan showed a cerebellar lesion. Histology obtained after surgery was suggestive of Lhermitte-Duclos disease. This together with the thyroid enlargement raised the suspicion of Cowden's disease. DNA analysis of PTEN gene confirmed the clinical diagnosis.
BCVA was 6/24 in the right eye and 6/6 in the left. Funduscopy revealed an anomalous right optic disc covered with elevated grayish glial tissue, distorted and dilated vasculature, retinal folds and exudation around the disc. FFA revealed typical CHR-RPE characteristics: multiple, irregular, dilated blood vessels, dilation of the retinal capillary network and diffuse leakage during late phase. OCT demonstrated an elevated mass with hyperreflectivity in the retina and hyporeflective shadowing of the underlying tissue, total retinal disorganization, and an epiretinal membrane.
ConclusionCHR-RPE should alert the clinician to the possibility of Cowden Syndrome. The recognition of this rare finding as a possible presenting feature can lead to earlier diagnosis, which is vital to appropriate surveillance and possibly life saving surgical intervention of the highly frequent neoplasias in Cowden Syndrome.
Auteur 1
NomDE ZAEYTIJD
InitialesJ
InstitutMoorfields Eye Hospital
VilleLondon
Auteur 2
NomBano
InitialesG
InstitutEndocrinology, St Georges Hospital
VilleLondon
Auteur 3
NomPal
InitialesB
InstitutMoorfields Eye Hospital
VilleLondon
Auteur 4
NomEgan
InitialesCA
InstitutMoorfields Eye Hospital
VilleLondon
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