Congenital Retinal Macrovessel and Cavernous Hemangioma in Cowden Syndrome - A Case Report and Review of Literature.

Abstract

PURPOSE:

To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature.

METHODS:

Observational case report and literature review.

RESULTS:

A 45-year-old white female with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian para-tubal cyst, chromophobe type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene which was consistent with CS.

CONCLUSION:

Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation including routine ocular examinations.

• Authors: Devin C Cohen, Jonathan C Tsui, Drew H Scoles
• Journal: Retinal cases & brief reports (Retin Cases Brief Rep) (Aug 21 2023) ISSN: 1937-1578 [Electronic] United States
• PMID: 37606231 (Publication Type: Journal Article)