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Review
. 2024 Nov 1;18(6):702-706.
doi: 10.1097/ICB.0000000000001477.

CONGENITAL RETINAL MACROVESSEL AND CAVERNOUS HEMANGIOMA IN COWDEN SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE

Devin C Cohen  1 , Jonathan C Tsui  1 , Drew Scoles  1   2
Affiliations
Review

CONGENITAL RETINAL MACROVESSEL AND CAVERNOUS HEMANGIOMA IN COWDEN SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE

Devin C Cohen et al. Retin Cases Brief Rep. .

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 patient with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian paratubal 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.

Keywords: Cowden syndrome; congenital retinal macrovessel; multiple hamartoma syndrome; retinal cavernous hemangioma.

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References

    1. Lloyd KM 2nd, Cowden's disease. Cowden's disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136–142.
    1. Nelen MR, Padberg GW, Peeters EAJ, et al. Localization of the gene for Cowden disease to chromosome 10q22–23. Nat Genet 1996;13:114–116.
    1. Pilarski R, Burt R, Kohlman W, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013;105:1607–1616.
    1. Samara A, Gusman M, Aker L, et al. The forgotten phacomatoses: a neuroimaging review of rare neurocutaneous disorders. Curr Probl Diagn Radiol 2022;51:747–758.
    1. Bardenstein DS, McLean IW, Nerney J, Boatwright R. Cowden's disease. Ophthalmology 1988;95:1038–1041.

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