Premium
A novel association of Cowden syndrome and combined hamartoma of retina and retinal pigment epithelium
Author(s) -
DE ZAEYTIJD J,
BANO G,
HODGSON S,
WILSON P,
PAL B,
EGAN C
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.472.x
Subject(s) - medicine , hamartoma , retinal pigment epithelium , pathology , retina , retinal , coloboma , cowden syndrome , lesion , ophthalmology , anatomy , pten , biology , neuroscience , apoptosis , biochemistry , pi3k/akt/mtor pathway
Purpose To describe a patient with Cowden syndrome(CS), the multiple hamartoma and neoplasia syndrome, who was diagnosed with a unilateral combined hamartoma of retina and retinal pigment epithelium(CHR‐RPE). Methods A 27‐year old lady presented with a history of headaches. She also had thyroid enlargement. She underwent MRI brain, full ophthalmic and genetic work‐up. Results MRI brain showed a cerebellar lesion and examinations of the eyes revealed an anomalous right optic disc on top of bilateral papilloedema. Histology of the cerebellar lesion 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. Conclusion Some ocular anomalies have been described in Cowden syndrome, however not CHR‐RPE. Therefore CHR‐RPE should alert the clinician to the possibility of CS in a suspected scenario. 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 CS.