Retinal angioma in a patient with Cowden disease.
OBJECTIVE
To report a rare case of ocular localization of Cowden disease.


METHODS
Case report.


METHODS
A 50-year-old woman with a history of multiple tumors was diagnosed with Cowden disease. A PTEN gene mutation was found. Visual acuity of the left eye had decreased 2 years before diagnosis.


RESULTS
Visual acuity was 20/20 in the right eye and 20/200 in the left eye. Right eye fundus examination showed an epiretinal membrane associated with a peripheral and temporal inferior angiomatous lesion. Treatment consisted of cryoapplication and surgical removal of the epiretinal membrane after central vitrectomy. Although the anatomic result was satisfactory, the patient's visual acuity remained unchanged.


CONCLUSIONS
Hamartomatous ocular lesions have been described in Cowden disease. We are unaware, however, of such retinal angiomatous lesions in patients with PTEN gene mutations.
Gicquel
Jean-Jacques
JJ
Department of Ophthalmology, CHU Jean Bernard, Poitiers, France.
Vabres
Pierre
P
Bonneau
Dominique
D
Mercié
Martial
M
Handiri
Latifa
L
Dighiero
Paul
P
D003452:Cryosurgery; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D019773:Epiretinal Membrane / Q000473:pathology / Q000601:surgery; D005260:Female; D016147:Genes, Tumor Suppressor; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006391:Hemangioma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D019572:Retinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D014792:Visual Acuity; D014821:Vitrectomy
D004273:DNA, Neoplasm; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human