Genome instability and mutation
Retinal angioma in a patient with Cowden disease.
To report a rare case of ocular localization of Cowden disease.
Case report.
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.
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.
Hamartomatous ocular lesions have been described in Cowden disease. We are unaware, however, of such retinal angiomatous lesions in patients with PTEN gene mutations.